Canonical Allele Identifier: CA206604174

Gene: ERCC6

Linked Data

• dbSNP Id: rs565069992
• gnomAD v2: 10-50701004-C-G
• gnomAD v3: 10-49492958-C-G
• gnomAD v4: 10-49492958-C-G
• MyVariant Identifiers: chr10:g.50701004C>G (hg19) ; chr10:g.49492958C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492958C>G , CM000672.2:g.49492958C>G	GRCh38
NC_000010.10:g.50701004C>G , CM000672.1:g.50701004C>G	GRCh37
NC_000010.9:g.50371010C>G	NCBI36
NG_009442.1:g.51144G>C , LRG_465:g.51144G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+159G>C MANE Select	ENSP00000348089.5:n.1821+159G>C
ENST00000681632.1:n.1899+159G>C
ENST00000681659.1:c.1662+159G>C	ENSP00000505631.1:n.1662+159G>C
ENST00000355832.9:c.1821+159G>C	ENSP00000348089.5:n.1821+159G>C
ENST00000475116.1:n.275+7580G>C
ENST00000623073.3:c.222+159G>C	ENSP00000485650.1:n.222+159G>C
ENST00000623115.3:c.-70+7580G>C	ENSP00000485321.1:n.-70+7580G>C
ENST00000623318.1:c.222+159G>C	ENSP00000485423.1:n.222+159G>C
NM_000124.3:c.1821+159G>C	NP_000115.1:n.1821+159G>C
NM_001346440.1:c.1821+159G>C	NP_001333369.1:n.1821+159G>C
NM_000124.4:c.1821+159G>C MANE Select	NP_000115.1:n.1821+159G>C
NM_001346440.2:c.1821+159G>C	NP_001333369.1:n.1821+159G>C