Canonical Allele Identifier: CA448564415

Gene: MAK TMEM14B

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10775428G>C , CM000668.2:g.10775428G>C	GRCh38
NC_000006.11:g.10775661G>C , CM000668.1:g.10775661G>C	GRCh37
NC_000006.10:g.10883647G>C	NCBI36
NG_030040.1:g.68128C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001242957.3:c.1497C>G (MAK) MANE Select	NP_001229886.1:p.Ala499=
ENST00000354489.7:c.1497C>G (MAK) MANE Select	ENSP00000346484.3:p.Ala499=
NM_001242385.1:c.1497C>G (MAK)	NP_001229314.1:p.Ala499=
NM_001242385.2:c.1497C>G (MAK)	NP_001229314.1:p.Ala499=
NM_001242957.1:c.1497C>G (MAK)	NP_001229886.1:p.Ala499=
NM_001242957.2:c.1497C>G (MAK)	NP_001229886.1:p.Ala499=
NM_001377262.1:c.1395C>G (MAK)	NP_001364191.1:p.Ala465=
NM_005906.4:c.1497C>G (MAK)	NP_005897.1:p.Ala499=
NM_005906.5:c.1497C>G (MAK)	NP_005897.1:p.Ala499=
NM_005906.6:c.1497C>G (MAK)	NP_005897.1:p.Ala499=
NR_134935.1:n.1884C>G (MAK)
NR_134935.2:n.1868C>G (MAK)
NR_134936.1:n.2040C>G (MAK)
NR_134936.2:n.2096C>G (MAK)
ENST00000313243.6:c.1497C>G (MAK)	ENSP00000313021.2:p.Ala499=
ENST00000354489.6:c.1497C>G (MAK)	ENSP00000346484.3:p.Ala499=
ENST00000460341.5:c.*120+5224G>C (TMEM14B)	ENSP00000417095.1:n.*120+5224G>C
ENST00000463100.5:c.*120+5224G>C (TMEM14B)	ENSP00000419806.1:n.*120+5224G>C
ENST00000463448.5:c.*120+5224G>C (TMEM14B)	ENSP00000419208.1:n.*120+5224G>C
ENST00000467229.1:c.284+5224G>C (TMEM14B)
ENST00000473166.5:c.*120+5224G>C (TMEM14B)	ENSP00000417416.1:n.*120+5224G>C
ENST00000473807.5:c.*120+5224G>C (TMEM14B)	ENSP00000419156.1:n.*120+5224G>C
ENST00000474039.5:c.1497C>G (MAK)	ENSP00000476067.1:p.Ala499=
ENST00000478732.1:c.264+5224G>C (TMEM14B)	ENSP00000418927.1:n.264+5224G>C
ENST00000480294.1:c.100+25730G>C	ENSP00000417929.1:n.100+25730G>C
ENST00000489137.1:n.128+5224G>C (TMEM14B)
ENST00000536370.5:c.1497C>G (MAK)	ENSP00000442221.2:p.Ala499=
ENST00000536370.6:c.1497C>G (MAK)	ENSP00000442221.2:p.Ala499=
ENST00000538030.2:c.*228C>G (MAK)	ENSP00000442250.1:n.*228C>G
ENST00000538030.3:c.*228C>G (MAK)	ENSP00000442250.1:n.*228C>G
ENST00000675026.1:c.*163C>G (MAK)	ENSP00000502542.1:n.*163C>G
ENST00000676116.1:c.1395C>G (MAK)	ENSP00000502045.1:p.Ala465=
XM_011514619.1:c.1497C>G (MAK)	XP_011512921.1:p.Ala499=
XM_011514619.2:c.1497C>G (MAK)	XP_011512921.1:p.Ala499=
XM_011514620.1:c.1497C>G (MAK)	XP_011512922.1:p.Ala499=
XM_011514620.2:c.1497C>G (MAK)	XP_011512922.1:p.Ala499=
XM_011514621.1:c.1440C>G (MAK)	XP_011512923.1:p.Ala480=
XM_011514621.2:c.1440C>G (MAK)	XP_011512923.1:p.Ala480=
XM_011514622.1:c.1497C>G (MAK)	XP_011512924.1:p.Ala499=
XM_011514622.3:c.1497C>G (MAK)	XP_011512924.1:p.Ala499=
XM_011514623.1:c.930C>G (MAK)	XP_011512925.1:p.Ala310=
XM_011514624.1:c.717C>G (MAK)	XP_011512926.1:p.Ala239=
XM_011514624.2:c.717C>G (MAK)	XP_011512926.1:p.Ala239=
XM_017010863.2:c.1497C>G (MAK)	XP_016866352.1:p.Ala499=
XM_017010864.2:c.1497C>G (MAK)	XP_016866353.1:p.Ala499=
XM_017010865.1:c.1440C>G (MAK)	XP_016866354.1:p.Ala480=
XM_024446443.1:c.930C>G (MAK)	XP_024302211.1:p.Ala310=
XR_002956283.1:n.1939C>G (MAK)
XR_926215.1:n.1829C>G (MAK)
XR_926215.3:n.1767C>G (MAK)
XR_926216.1:n.2037C>G (MAK)
XR_926217.1:n.2012C>G (MAK)
XR_926219.1:n.1934C>G (MAK)
XR_926220.1:n.1656C>G (MAK)
XR_926220.3:n.1594C>G (MAK)
XR_926221.1:n.1828C>G (MAK)