Canonical Allele Identifier: CA376708339

Gene: ERCC6

Linked Data

• dbSNP Id: rs1173513523
• gnomAD v2: 10-50669470-C-A
• gnomAD v3: 10-49461424-C-A
• gnomAD v4: 10-49461424-C-A
• MyVariant Identifiers: chr10:g.50669470C>A (hg19) ; chr10:g.49461424C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461424C>A , CM000672.2:g.49461424C>A	GRCh38
NC_000010.10:g.50669470C>A , CM000672.1:g.50669470C>A	GRCh37
NC_000010.9:g.50339476C>A	NCBI36
NG_009442.1:g.82678G>T , LRG_465:g.82678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3911G>T MANE Select	ENSP00000348089.5:p.Cys1304Phe
ENST00000679552.1:n.982G>T
ENST00000679871.1:n.1057G>T
ENST00000679974.1:n.960G>T
ENST00000681632.1:n.5314G>T
ENST00000681659.1:c.3752G>T	ENSP00000505631.1:p.Cys1251Phe
ENST00000355832.9:c.3911G>T	ENSP00000348089.5:p.Cys1304Phe
ENST00000465653.1:n.233G>T
ENST00000623073.3:c.*2207G>T	ENSP00000485650.1:n.*2207G>T
ENST00000623115.3:c.2021G>T	ENSP00000485321.1:p.Cys674Phe
ENST00000624341.3:c.1743G>T
NM_000124.3:c.3911G>T	NP_000115.1:p.Cys1304Phe
XR_945953.1:n.243-10141C>A
NM_001346440.1:c.3911G>T	NP_001333369.1:p.Cys1304Phe
NM_000124.4:c.3911G>T MANE Select	NP_000115.1:p.Cys1304Phe
NM_001346440.2:c.3911G>T	NP_001333369.1:p.Cys1304Phe