Canonical Allele Identifier: CA376717619

Gene: ERCC6

Linked Data

• dbSNP Id: rs1564729633
• gnomAD v4: 10-49471047-C-A
• MyVariant Identifiers: chr10:g.50679093C>A (hg19) ; chr10:g.49471047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471047C>A , CM000672.2:g.49471047C>A	GRCh38
NC_000010.10:g.50679093C>A , CM000672.1:g.50679093C>A	GRCh37
NC_000010.9:g.50349099C>A	NCBI36
NG_009442.1:g.73055G>T , LRG_465:g.73055G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2998G>T MANE Select	ENSP00000348089.5:p.Asp1000Tyr
ENST00000679552.1:n.142-158G>T
ENST00000679871.1:n.144G>T
ENST00000679974.1:n.120-158G>T
ENST00000681632.1:n.4401G>T
ENST00000681659.1:c.2839G>T	ENSP00000505631.1:p.Asp947Tyr
ENST00000355832.9:c.2998G>T	ENSP00000348089.5:p.Asp1000Tyr
ENST00000623073.3:c.*1294G>T	ENSP00000485650.1:n.*1294G>T
ENST00000623115.3:c.1108G>T	ENSP00000485321.1:p.Asp370Tyr
ENST00000624341.3:c.830G>T
NM_000124.3:c.2998G>T	NP_000115.1:p.Asp1000Tyr
XR_945953.1:n.243-518C>A
NM_001346440.1:c.2998G>T	NP_001333369.1:p.Asp1000Tyr
NM_000124.4:c.2998G>T MANE Select	NP_000115.1:p.Asp1000Tyr
NM_001346440.2:c.2998G>T	NP_001333369.1:p.Asp1000Tyr