Canonical Allele Identifier: CA10625411

Gene: MAK TMEM14B

Linked Data

• ClinVar Variation Id: 354776
• ClinVar RCV Id: RCV000328394
• dbSNP Id: rs886060927
• gnomAD v3: 6-10763724-G-A
• gnomAD v4: 6-10763724-G-A
• MyVariant Identifiers: chr6:g.10763957G>A (hg19) ; chr6:g.10763724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10763724G>A , CM000668.2:g.10763724G>A	GRCh38
NC_000006.11:g.10763957G>A , CM000668.1:g.10763957G>A	GRCh37
NC_000006.10:g.10871943G>A	NCBI36
NG_030040.1:g.79832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354489.7:c.*728C>T (MAK) MANE Select	ENSP00000346484.3:n.*728C>T
ENST00000536370.6:c.*728C>T (MAK)	ENSP00000442221.2:n.*728C>T
ENST00000676116.1:c.*728C>T (MAK)	ENSP00000502045.1:n.*728C>T
ENST00000313243.6:c.*728C>T (MAK)	ENSP00000313021.2:n.*728C>T
ENST00000354489.6:c.*728C>T (MAK)	ENSP00000346484.3:n.*728C>T
ENST00000460341.5:c.101-6353G>A (TMEM14B)	ENSP00000417095.1:n.101-6353G>A
ENST00000463100.5:c.101-6353G>A (TMEM14B)	ENSP00000419806.1:n.101-6353G>A
ENST00000463448.5:c.101-6353G>A (TMEM14B)	ENSP00000419208.1:n.101-6353G>A
ENST00000467229.1:c.157-6353G>A (TMEM14B)
ENST00000473166.5:c.101-6353G>A (TMEM14B)	ENSP00000417416.1:n.101-6353G>A
ENST00000473807.5:c.101-6353G>A (TMEM14B)	ENSP00000419156.1:n.101-6353G>A
ENST00000474039.5:c.*728C>T (MAK)	ENSP00000476067.1:n.*728C>T
ENST00000478732.1:c.137-6353G>A (TMEM14B)	ENSP00000418927.1:n.137-6353G>A
ENST00000480294.1:c.100+14026G>A	ENSP00000417929.1:n.100+14026G>A
ENST00000536370.5:c.*728C>T (MAK)	ENSP00000442221.2:n.*728C>T
NM_001242385.1:c.*728C>T (MAK)	NP_001229314.1:n.*728C>T
NM_001242957.1:c.*728C>T (MAK)	NP_001229886.1:n.*728C>T
NM_005906.4:c.*728C>T (MAK)	NP_005897.1:n.*728C>T
NM_001242957.2:c.*728C>T (MAK)	NP_001229886.1:n.*728C>T
NM_005906.5:c.*728C>T (MAK)	NP_005897.1:n.*728C>T
NR_134935.1:n.2987C>T (MAK)
NR_134936.1:n.3143C>T (MAK)
XM_011514619.2:c.*728C>T (MAK)	XP_011512921.1:n.*728C>T
XM_011514620.2:c.*728C>T (MAK)	XP_011512922.1:n.*728C>T
XM_011514622.3:c.*728C>T (MAK)	XP_011512924.1:n.*728C>T
XM_017010863.2:c.*728C>T (MAK)	XP_016866352.1:n.*728C>T
XM_017010864.2:c.*728C>T (MAK)	XP_016866353.1:n.*728C>T
XM_017010865.1:c.*728C>T (MAK)	XP_016866354.1:n.*728C>T
NM_001242957.3:c.*728C>T (MAK) MANE Select	NP_001229886.1:n.*728C>T
NM_001377262.1:c.*728C>T (MAK)	NP_001364191.1:n.*728C>T
NM_005906.6:c.*728C>T (MAK)	NP_005897.1:n.*728C>T
NR_134935.2:n.2971C>T (MAK)
NR_134936.2:n.3199C>T (MAK)
NM_001242385.2:c.*728C>T (MAK)	NP_001229314.1:n.*728C>T