Canonical Allele Identifier: CA376717692

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850771331
• gnomAD v3: 10-49471061-A-C
• gnomAD v4: 10-49471061-A-C
• MyVariant Identifiers: chr10:g.50679107A>C (hg19) ; chr10:g.49471061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471061A>C , CM000672.2:g.49471061A>C	GRCh38
NC_000010.10:g.50679107A>C , CM000672.1:g.50679107A>C	GRCh37
NC_000010.9:g.50349113A>C	NCBI36
NG_009442.1:g.73041T>G , LRG_465:g.73041T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2984T>G MANE Select	ENSP00000348089.5:p.Phe995Cys
ENST00000679552.1:n.142-172T>G
ENST00000679871.1:n.130T>G
ENST00000679974.1:n.120-172T>G
ENST00000681632.1:n.4387T>G
ENST00000681659.1:c.2825T>G	ENSP00000505631.1:p.Phe942Cys
ENST00000355832.9:c.2984T>G	ENSP00000348089.5:p.Phe995Cys
ENST00000623073.3:c.*1280T>G	ENSP00000485650.1:n.*1280T>G
ENST00000623115.3:c.1094T>G	ENSP00000485321.1:p.Phe365Cys
ENST00000624341.3:c.816T>G
NM_000124.3:c.2984T>G	NP_000115.1:p.Phe995Cys
XR_945953.1:n.243-504A>C
NM_001346440.1:c.2984T>G	NP_001333369.1:p.Phe995Cys
NM_000124.4:c.2984T>G MANE Select	NP_000115.1:p.Phe995Cys
NM_001346440.2:c.2984T>G	NP_001333369.1:p.Phe995Cys