Canonical Allele Identifier: CA206604051

Gene: ERCC6

Linked Data

• dbSNP Id: rs985705558
• gnomAD v3: 10-49492842-C-T
• gnomAD v4: 10-49492842-C-T
• MyVariant Identifiers: chr10:g.50700888C>T (hg19) ; chr10:g.49492842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492842C>T , CM000672.2:g.49492842C>T	GRCh38
NC_000010.10:g.50700888C>T , CM000672.1:g.50700888C>T	GRCh37
NC_000010.9:g.50370894C>T	NCBI36
NG_009442.1:g.51260G>A , LRG_465:g.51260G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+275G>A MANE Select	ENSP00000348089.5:n.1821+275G>A
ENST00000681632.1:n.1899+275G>A
ENST00000681659.1:c.1662+275G>A	ENSP00000505631.1:n.1662+275G>A
ENST00000355832.9:c.1821+275G>A	ENSP00000348089.5:n.1821+275G>A
ENST00000475116.1:n.275+7696G>A
ENST00000623073.3:c.222+275G>A	ENSP00000485650.1:n.222+275G>A
ENST00000623115.3:c.-70+7696G>A	ENSP00000485321.1:n.-70+7696G>A
ENST00000623318.1:c.222+275G>A	ENSP00000485423.1:n.222+275G>A
NM_000124.3:c.1821+275G>A	NP_000115.1:n.1821+275G>A
NM_001346440.1:c.1821+275G>A	NP_001333369.1:n.1821+275G>A
NM_000124.4:c.1821+275G>A MANE Select	NP_000115.1:n.1821+275G>A
NM_001346440.2:c.1821+275G>A	NP_001333369.1:n.1821+275G>A