Canonical Allele Identifier: CA376726479

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701208G>C (hg19) ; chr10:g.49493162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493162G>C , CM000672.2:g.49493162G>C	GRCh38
NC_000010.10:g.50701208G>C , CM000672.1:g.50701208G>C	GRCh37
NC_000010.9:g.50371214G>C	NCBI36
NG_009442.1:g.50940C>G , LRG_465:g.50940C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1776C>G MANE Select	ENSP00000348089.5:p.Phe592Leu
ENST00000681632.1:n.1854C>G
ENST00000681659.1:c.1617C>G	ENSP00000505631.1:p.Phe539Leu
ENST00000355832.9:c.1776C>G	ENSP00000348089.5:p.Phe592Leu
ENST00000475116.1:n.275+7376C>G
ENST00000623073.3:c.177C>G	ENSP00000485650.1:p.Phe59Leu
ENST00000623115.3:c.-70+7376C>G	ENSP00000485321.1:n.-70+7376C>G
ENST00000623318.1:c.177C>G	ENSP00000485423.1:p.Phe59Leu
NM_000124.3:c.1776C>G	NP_000115.1:p.Phe592Leu
NM_001346440.1:c.1776C>G	NP_001333369.1:p.Phe592Leu
NM_000124.4:c.1776C>G MANE Select	NP_000115.1:p.Phe592Leu
NM_001346440.2:c.1776C>G	NP_001333369.1:p.Phe592Leu