Canonical Allele Identifier: CA376708005

Gene: ERCC6

Linked Data

• dbSNP Id: rs1369278926
• gnomAD v2: 10-50668418-C-G
• MyVariant Identifiers: chr10:g.50668418C>G (hg19) ; chr10:g.49460372C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460372C>G , CM000672.2:g.49460372C>G	GRCh38
NC_000010.10:g.50668418C>G , CM000672.1:g.50668418C>G	GRCh37
NC_000010.9:g.50338424C>G	NCBI36
NG_009442.1:g.83730G>C , LRG_465:g.83730G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4062+1G>C MANE Select	ENSP00000348089.5:n.4062+1G>C
ENST00000679552.1:n.1134G>C
ENST00000679871.1:n.1208+1G>C
ENST00000679974.1:n.1111+1G>C
ENST00000681632.1:n.5465+1G>C
ENST00000681659.1:c.3903+1G>C	ENSP00000505631.1:n.3903+1G>C
ENST00000355832.9:c.4062+1G>C	ENSP00000348089.5:n.4062+1G>C
ENST00000465653.1:n.385G>C
ENST00000623073.3:c.*2358+1G>C	ENSP00000485650.1:n.*2358+1G>C
ENST00000623115.3:c.2172+1G>C	ENSP00000485321.1:n.2172+1G>C
ENST00000624341.3:c.1894+1G>C
NM_000124.3:c.4062+1G>C	NP_000115.1:n.4062+1G>C
XR_945953.1:n.243-11193C>G
NM_001346440.1:c.4062+1G>C	NP_001333369.1:n.4062+1G>C
NM_000124.4:c.4062+1G>C MANE Select	NP_000115.1:n.4062+1G>C
NM_001346440.2:c.4062+1G>C	NP_001333369.1:n.4062+1G>C