Canonical Allele Identifier: CA376708359

Gene: ERCC6

Linked Data

• dbSNP Id: rs1277930972
• gnomAD v2: 10-50669483-A-G
• gnomAD v4: 10-49461437-A-G
• MyVariant Identifiers: chr10:g.50669483A>G (hg19) ; chr10:g.49461437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461437A>G , CM000672.2:g.49461437A>G	GRCh38
NC_000010.10:g.50669483A>G , CM000672.1:g.50669483A>G	GRCh37
NC_000010.9:g.50339489A>G	NCBI36
NG_009442.1:g.82665T>C , LRG_465:g.82665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3898T>C MANE Select	ENSP00000348089.5:p.Ser1300Pro
ENST00000679552.1:n.969T>C
ENST00000679871.1:n.1044T>C
ENST00000679974.1:n.947T>C
ENST00000681632.1:n.5301T>C
ENST00000681659.1:c.3739T>C	ENSP00000505631.1:p.Ser1247Pro
ENST00000355832.9:c.3898T>C	ENSP00000348089.5:p.Ser1300Pro
ENST00000465653.1:n.220T>C
ENST00000623073.3:c.*2194T>C	ENSP00000485650.1:n.*2194T>C
ENST00000623115.3:c.2008T>C	ENSP00000485321.1:p.Ser670Pro
ENST00000624341.3:c.1730T>C
NM_000124.3:c.3898T>C	NP_000115.1:p.Ser1300Pro
XR_945953.1:n.243-10128A>G
NM_001346440.1:c.3898T>C	NP_001333369.1:p.Ser1300Pro
NM_000124.4:c.3898T>C MANE Select	NP_000115.1:p.Ser1300Pro
NM_001346440.2:c.3898T>C	NP_001333369.1:p.Ser1300Pro