Canonical Allele Identifier: CA376708338

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461424-C-T
• MyVariant Identifiers: chr10:g.50669470C>T (hg19) ; chr10:g.49461424C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3911G>A MANE Select	ENSP00000348089.5:p.Cys1304Tyr
ENST00000679552.1:n.982G>A
ENST00000679871.1:n.1057G>A
ENST00000679974.1:n.960G>A
ENST00000681632.1:n.5314G>A
ENST00000681659.1:c.3752G>A	ENSP00000505631.1:p.Cys1251Tyr
ENST00000355832.9:c.3911G>A	ENSP00000348089.5:p.Cys1304Tyr
ENST00000465653.1:n.233G>A
ENST00000623073.3:c.*2207G>A	ENSP00000485650.1:n.*2207G>A
ENST00000623115.3:c.2021G>A	ENSP00000485321.1:p.Cys674Tyr
ENST00000624341.3:c.1743G>A
NM_000124.3:c.3911G>A	NP_000115.1:p.Cys1304Tyr
XR_945953.1:n.243-10141C>T
NM_001346440.1:c.3911G>A	NP_001333369.1:p.Cys1304Tyr
NM_000124.4:c.3911G>A MANE Select	NP_000115.1:p.Cys1304Tyr
NM_001346440.2:c.3911G>A	NP_001333369.1:p.Cys1304Tyr