Canonical Allele Identifier: CA376715416

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470590-T-G
• MyVariant Identifiers: chr10:g.50678636T>G (hg19) ; chr10:g.49470590T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470590T>G , CM000672.2:g.49470590T>G	GRCh38
NC_000010.10:g.50678636T>G , CM000672.1:g.50678636T>G	GRCh37
NC_000010.9:g.50348642T>G	NCBI36
NG_009442.1:g.73512A>C , LRG_465:g.73512A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3370A>C MANE Select	ENSP00000348089.5:p.Ser1124Arg
ENST00000679552.1:n.441A>C
ENST00000679871.1:n.516A>C
ENST00000679974.1:n.419A>C
ENST00000681632.1:n.4773A>C
ENST00000681659.1:c.3211A>C	ENSP00000505631.1:p.Ser1071Arg
ENST00000355832.9:c.3370A>C	ENSP00000348089.5:p.Ser1124Arg
ENST00000623073.3:c.*1666A>C	ENSP00000485650.1:n.*1666A>C
ENST00000623115.3:c.1480A>C	ENSP00000485321.1:p.Ser494Arg
ENST00000624341.3:c.1202A>C
NM_000124.3:c.3370A>C	NP_000115.1:p.Ser1124Arg
XR_945953.1:n.243-975T>G
NM_001346440.1:c.3370A>C	NP_001333369.1:p.Ser1124Arg
NM_000124.4:c.3370A>C MANE Select	NP_000115.1:p.Ser1124Arg
NM_001346440.2:c.3370A>C	NP_001333369.1:p.Ser1124Arg