Canonical Allele Identifier: CA376717147

Gene: ERCC6

Linked Data

• dbSNP Id: rs1189056021
• gnomAD v2: 10-50678920-A-G
• gnomAD v4: 10-49470874-A-G
• MyVariant Identifiers: chr10:g.50678920A>G (hg19) ; chr10:g.49470874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470874A>G , CM000672.2:g.49470874A>G	GRCh38
NC_000010.10:g.50678920A>G , CM000672.1:g.50678920A>G	GRCh37
NC_000010.9:g.50348926A>G	NCBI36
NG_009442.1:g.73228T>C , LRG_465:g.73228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3086T>C MANE Select	ENSP00000348089.5:p.Val1029Ala
ENST00000679552.1:n.157T>C
ENST00000679871.1:n.232T>C
ENST00000679974.1:n.135T>C
ENST00000681632.1:n.4489T>C
ENST00000681659.1:c.2927T>C	ENSP00000505631.1:p.Val976Ala
ENST00000355832.9:c.3086T>C	ENSP00000348089.5:p.Val1029Ala
ENST00000623073.3:c.*1382T>C	ENSP00000485650.1:n.*1382T>C
ENST00000623115.3:c.1196T>C	ENSP00000485321.1:p.Val399Ala
ENST00000624341.3:c.918T>C
NM_000124.3:c.3086T>C	NP_000115.1:p.Val1029Ala
XR_945953.1:n.243-691A>G
NM_001346440.1:c.3086T>C	NP_001333369.1:p.Val1029Ala
NM_000124.4:c.3086T>C MANE Select	NP_000115.1:p.Val1029Ala
NM_001346440.2:c.3086T>C	NP_001333369.1:p.Val1029Ala