Canonical Allele Identifier: CA376708586

Gene: ERCC6

Linked Data

• dbSNP Id: rs1311037216
• gnomAD v2: 10-50669555-T-G
• gnomAD v4: 10-49461509-T-G
• MyVariant Identifiers: chr10:g.50669555T>G (hg19) ; chr10:g.49461509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461509T>G , CM000672.2:g.49461509T>G	GRCh38
NC_000010.10:g.50669555T>G , CM000672.1:g.50669555T>G	GRCh37
NC_000010.9:g.50339561T>G	NCBI36
NG_009442.1:g.82593A>C , LRG_465:g.82593A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3826A>C MANE Select	ENSP00000348089.5:p.Ser1276Arg
ENST00000679552.1:n.897A>C
ENST00000679871.1:n.972A>C
ENST00000679974.1:n.875A>C
ENST00000681632.1:n.5229A>C
ENST00000681659.1:c.3667A>C	ENSP00000505631.1:p.Ser1223Arg
ENST00000355832.9:c.3826A>C	ENSP00000348089.5:p.Ser1276Arg
ENST00000465653.1:n.148A>C
ENST00000623073.3:c.*2122A>C	ENSP00000485650.1:n.*2122A>C
ENST00000623115.3:c.1936A>C	ENSP00000485321.1:p.Ser646Arg
ENST00000624341.3:c.1658A>C
NM_000124.3:c.3826A>C	NP_000115.1:p.Ser1276Arg
XR_945953.1:n.243-10056T>G
NM_001346440.1:c.3826A>C	NP_001333369.1:p.Ser1276Arg
NM_000124.4:c.3826A>C MANE Select	NP_000115.1:p.Ser1276Arg
NM_001346440.2:c.3826A>C	NP_001333369.1:p.Ser1276Arg