Canonical Allele Identifier: CA376715291

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850758692
• MyVariant Identifiers: chr10:g.50678620C>A (hg19) ; chr10:g.49470574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470574C>A , CM000672.2:g.49470574C>A	GRCh38
NC_000010.10:g.50678620C>A , CM000672.1:g.50678620C>A	GRCh37
NC_000010.9:g.50348626C>A	NCBI36
NG_009442.1:g.73528G>T , LRG_465:g.73528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3386G>T MANE Select	ENSP00000348089.5:p.Cys1129Phe
ENST00000679552.1:n.457G>T
ENST00000679871.1:n.532G>T
ENST00000679974.1:n.435G>T
ENST00000681632.1:n.4789G>T
ENST00000681659.1:c.3227G>T	ENSP00000505631.1:p.Cys1076Phe
ENST00000355832.9:c.3386G>T	ENSP00000348089.5:p.Cys1129Phe
ENST00000623073.3:c.*1682G>T	ENSP00000485650.1:n.*1682G>T
ENST00000623115.3:c.1496G>T	ENSP00000485321.1:p.Cys499Phe
ENST00000624341.3:c.1218G>T
NM_000124.3:c.3386G>T	NP_000115.1:p.Cys1129Phe
XR_945953.1:n.243-991C>A
NM_001346440.1:c.3386G>T	NP_001333369.1:p.Cys1129Phe
NM_000124.4:c.3386G>T MANE Select	NP_000115.1:p.Cys1129Phe
NM_001346440.2:c.3386G>T	NP_001333369.1:p.Cys1129Phe