Canonical Allele Identifier: CA376726618

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701269A>G (hg19) ; chr10:g.49493223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493223A>G , CM000672.2:g.49493223A>G	GRCh38
NC_000010.10:g.50701269A>G , CM000672.1:g.50701269A>G	GRCh37
NC_000010.9:g.50371275A>G	NCBI36
NG_009442.1:g.50879T>C , LRG_465:g.50879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1715T>C MANE Select	ENSP00000348089.5:p.Val572Ala
ENST00000681632.1:n.1793T>C
ENST00000681659.1:c.1556T>C	ENSP00000505631.1:p.Val519Ala
ENST00000355832.9:c.1715T>C	ENSP00000348089.5:p.Val572Ala
ENST00000475116.1:n.275+7315T>C
ENST00000623073.3:c.116T>C	ENSP00000485650.1:p.Val39Ala
ENST00000623115.3:c.-70+7315T>C	ENSP00000485321.1:n.-70+7315T>C
ENST00000623318.1:c.116T>C	ENSP00000485423.1:p.Val39Ala
NM_000124.3:c.1715T>C	NP_000115.1:p.Val572Ala
NM_001346440.1:c.1715T>C	NP_001333369.1:p.Val572Ala
NM_000124.4:c.1715T>C MANE Select	NP_000115.1:p.Val572Ala
NM_001346440.2:c.1715T>C	NP_001333369.1:p.Val572Ala