Canonical Allele Identifier: CA376716359

Gene: ERCC6

Linked Data

• dbSNP Id: rs1171931512
• gnomAD v2: 10-50678793-C-A
• gnomAD v4: 10-49470747-C-A
• MyVariant Identifiers: chr10:g.50678793C>A (hg19) ; chr10:g.49470747C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470747C>A , CM000672.2:g.49470747C>A	GRCh38
NC_000010.10:g.50678793C>A , CM000672.1:g.50678793C>A	GRCh37
NC_000010.9:g.50348799C>A	NCBI36
NG_009442.1:g.73355G>T , LRG_465:g.73355G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3213G>T MANE Select	ENSP00000348089.5:p.Glu1071Asp
ENST00000679552.1:n.284G>T
ENST00000679871.1:n.359G>T
ENST00000679974.1:n.262G>T
ENST00000681632.1:n.4616G>T
ENST00000681659.1:c.3054G>T	ENSP00000505631.1:p.Glu1018Asp
ENST00000355832.9:c.3213G>T	ENSP00000348089.5:p.Glu1071Asp
ENST00000623073.3:c.*1509G>T	ENSP00000485650.1:n.*1509G>T
ENST00000623115.3:c.1323G>T	ENSP00000485321.1:p.Glu441Asp
ENST00000624341.3:c.1045G>T
NM_000124.3:c.3213G>T	NP_000115.1:p.Glu1071Asp
XR_945953.1:n.243-818C>A
NM_001346440.1:c.3213G>T	NP_001333369.1:p.Glu1071Asp
NM_000124.4:c.3213G>T MANE Select	NP_000115.1:p.Glu1071Asp
NM_001346440.2:c.3213G>T	NP_001333369.1:p.Glu1071Asp