Canonical Allele Identifier: CA3633734

Gene: MAK TMEM14B

Linked Data

• dbSNP Id: rs773263219
• ExAC: 6:10809159 G / A
• gnomAD v2: 6-10809159-G-A
• gnomAD v4: 6-10808926-G-A
• MyVariant Identifiers: chr6:g.10809159G>A (hg19) ; chr6:g.10808926G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10808926G>A , CM000668.2:g.10808926G>A	GRCh38
NC_000006.11:g.10809159G>A , CM000668.1:g.10809159G>A	GRCh37
NC_000006.10:g.10917145G>A	NCBI36
NG_030040.1:g.34630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354489.7:c.375C>T (MAK) MANE Select	ENSP00000346484.3:p.Asp125=
ENST00000536370.6:c.375C>T (MAK)	ENSP00000442221.2:p.Asp125=
ENST00000538030.3:c.375C>T (MAK)	ENSP00000442250.1:p.Asp125=
ENST00000675026.1:c.375C>T (MAK)	ENSP00000502542.1:p.Asp125=
ENST00000676116.1:c.273C>T (MAK)	ENSP00000502045.1:p.Asp91=
ENST00000313243.6:c.375C>T (MAK)	ENSP00000313021.2:p.Asp125=
ENST00000354489.6:c.375C>T (MAK)	ENSP00000346484.3:p.Asp125=
ENST00000460341.5:c.*121-29098G>A (TMEM14B)	ENSP00000417095.1:n.*121-29098G>A
ENST00000463100.5:c.*121-20081G>A (TMEM14B)	ENSP00000419806.1:n.*121-20081G>A
ENST00000463448.5:c.*120+38722G>A (TMEM14B)	ENSP00000419208.1:n.*120+38722G>A
ENST00000467229.1:c.285-20081G>A (TMEM14B)
ENST00000473166.5:c.*121-17638G>A (TMEM14B)	ENSP00000417416.1:n.*121-17638G>A
ENST00000474039.5:c.375C>T (MAK)	ENSP00000476067.1:p.Asp125=
ENST00000480294.1:c.100+59228G>A	ENSP00000417929.1:n.100+59228G>A
ENST00000489137.1:n.129-17638G>A (TMEM14B)
ENST00000536370.5:c.375C>T (MAK)	ENSP00000442221.2:p.Asp125=
ENST00000538030.2:c.375C>T (MAK)	ENSP00000442250.1:p.Asp125=
NM_001242385.1:c.375C>T (MAK)	NP_001229314.1:p.Asp125=
NM_001242957.1:c.375C>T (MAK)	NP_001229886.1:p.Asp125=
NM_005906.4:c.375C>T (MAK)	NP_005897.1:p.Asp125=
XM_011514619.1:c.375C>T (MAK)	XP_011512921.1:p.Asp125=
XM_011514620.1:c.375C>T (MAK)	XP_011512922.1:p.Asp125=
XM_011514621.1:c.318C>T (MAK)	XP_011512923.1:p.Asp106=
XM_011514622.1:c.375C>T (MAK)	XP_011512924.1:p.Asp125=
XM_011514623.1:c.-77+4718C>T (MAK)	XP_011512925.1:n.-77+4718C>T
XR_926215.1:n.707C>T (MAK)
XR_926216.1:n.743C>T (MAK)
XR_926217.1:n.707C>T (MAK)
XR_926219.1:n.707C>T (MAK)
XR_926220.1:n.707C>T (MAK)
XR_926221.1:n.707C>T (MAK)
NM_001242957.2:c.375C>T (MAK)	NP_001229886.1:p.Asp125=
NM_005906.5:c.375C>T (MAK)	NP_005897.1:p.Asp125=
NR_134935.1:n.657C>T (MAK)
NR_134936.1:n.746C>T (MAK)
XM_011514619.2:c.375C>T (MAK)	XP_011512921.1:p.Asp125=
XM_011514620.2:c.375C>T (MAK)	XP_011512922.1:p.Asp125=
XM_011514621.2:c.318C>T (MAK)	XP_011512923.1:p.Asp106=
XM_011514622.3:c.375C>T (MAK)	XP_011512924.1:p.Asp125=
XM_017010863.2:c.375C>T (MAK)	XP_016866352.1:p.Asp125=
XM_017010864.2:c.375C>T (MAK)	XP_016866353.1:p.Asp125=
XM_017010865.1:c.318C>T (MAK)	XP_016866354.1:p.Asp106=
XM_017010866.2:c.375C>T (MAK)	XP_016866355.1:p.Asp125=
XM_024446443.1:c.-77+4718C>T (MAK)	XP_024302211.1:n.-77+4718C>T
XM_024446444.1:c.375C>T (MAK)	XP_024302212.1:p.Asp125=
XR_001743419.2:n.645C>T (MAK)
XR_002956283.1:n.645C>T (MAK)
XR_926215.3:n.645C>T (MAK)
XR_926220.3:n.645C>T (MAK)
NM_001242957.3:c.375C>T (MAK) MANE Select	NP_001229886.1:p.Asp125=
NM_001377262.1:c.273C>T (MAK)	NP_001364191.1:p.Asp91=
NM_005906.6:c.375C>T (MAK)	NP_005897.1:p.Asp125=
NR_134935.2:n.641C>T (MAK)
NR_134936.2:n.802C>T (MAK)
NM_001242385.2:c.375C>T (MAK)	NP_001229314.1:p.Asp125=