Canonical Allele Identifier: CA5495918

Gene: ERCC6

Linked Data

• dbSNP Id: rs762156132
• ExAC: 10:50708639 C / G
• gnomAD v2: 10-50708639-C-G
• gnomAD v4: 10-49500593-C-G
• MyVariant Identifiers: chr10:g.50708639C>G (hg19) ; chr10:g.49500593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500593C>G , CM000672.2:g.49500593C>G	GRCh38
NC_000010.10:g.50708639C>G , CM000672.1:g.50708639C>G	GRCh37
NC_000010.9:g.50378645C>G	NCBI36
NG_009442.1:g.43509G>C , LRG_465:g.43509G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1630G>C MANE Select	ENSP00000348089.5:p.Ala544Pro
ENST00000681632.1:n.1708G>C
ENST00000681659.1:c.1526+5291G>C	ENSP00000505631.1:n.1526+5291G>C
ENST00000355832.9:c.1630G>C	ENSP00000348089.5:p.Ala544Pro
ENST00000475116.1:n.220G>C
ENST00000623073.3:c.31G>C	ENSP00000485650.1:p.Ala11Pro
ENST00000623115.3:c.-125G>C	ENSP00000485321.1:n.-125G>C
ENST00000623318.1:c.31G>C	ENSP00000485423.1:p.Ala11Pro
NM_000124.3:c.1630G>C	NP_000115.1:p.Ala544Pro
NM_001346440.1:c.1630G>C	NP_001333369.1:p.Ala544Pro
NM_000124.4:c.1630G>C MANE Select	NP_000115.1:p.Ala544Pro
NM_001346440.2:c.1630G>C	NP_001333369.1:p.Ala544Pro