Canonical Allele Identifier: CA376717456

Gene: ERCC6

Linked Data

• dbSNP Id: rs1184355701
• gnomAD v2: 10-50679059-T-C
• gnomAD v4: 10-49471013-T-C
• MyVariant Identifiers: chr10:g.50679059T>C (hg19) ; chr10:g.49471013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471013T>C , CM000672.2:g.49471013T>C	GRCh38
NC_000010.10:g.50679059T>C , CM000672.1:g.50679059T>C	GRCh37
NC_000010.9:g.50349065T>C	NCBI36
NG_009442.1:g.73089A>G , LRG_465:g.73089A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3032A>G MANE Select	ENSP00000348089.5:p.Asp1011Gly
ENST00000679552.1:n.142-124A>G
ENST00000679871.1:n.178A>G
ENST00000679974.1:n.120-124A>G
ENST00000681632.1:n.4435A>G
ENST00000681659.1:c.2873A>G	ENSP00000505631.1:p.Asp958Gly
ENST00000355832.9:c.3032A>G	ENSP00000348089.5:p.Asp1011Gly
ENST00000623073.3:c.*1328A>G	ENSP00000485650.1:n.*1328A>G
ENST00000623115.3:c.1142A>G	ENSP00000485321.1:p.Asp381Gly
ENST00000624341.3:c.864A>G
NM_000124.3:c.3032A>G	NP_000115.1:p.Asp1011Gly
XR_945953.1:n.243-552T>C
NM_001346440.1:c.3032A>G	NP_001333369.1:p.Asp1011Gly
NM_000124.4:c.3032A>G MANE Select	NP_000115.1:p.Asp1011Gly
NM_001346440.2:c.3032A>G	NP_001333369.1:p.Asp1011Gly