Canonical Allele Identifier: CA376708267

Gene: ERCC6

Linked Data

• dbSNP Id: rs1167014744
• gnomAD v3: 10-49461388-C-T
• gnomAD v4: 10-49461388-C-T
• MyVariant Identifiers: chr10:g.50669434C>T (hg19) ; chr10:g.49461388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461388C>T , CM000672.2:g.49461388C>T	GRCh38
NC_000010.10:g.50669434C>T , CM000672.1:g.50669434C>T	GRCh37
NC_000010.9:g.50339440C>T	NCBI36
NG_009442.1:g.82714G>A , LRG_465:g.82714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3947G>A MANE Select	ENSP00000348089.5:p.Gly1316Asp
ENST00000679552.1:n.1018G>A
ENST00000679871.1:n.1093G>A
ENST00000679974.1:n.996G>A
ENST00000681632.1:n.5350G>A
ENST00000681659.1:c.3788G>A	ENSP00000505631.1:p.Gly1263Asp
ENST00000355832.9:c.3947G>A	ENSP00000348089.5:p.Gly1316Asp
ENST00000465653.1:n.269G>A
ENST00000623073.3:c.*2243G>A	ENSP00000485650.1:n.*2243G>A
ENST00000623115.3:c.2057G>A	ENSP00000485321.1:p.Gly686Asp
ENST00000624341.3:c.1779G>A
NM_000124.3:c.3947G>A	NP_000115.1:p.Gly1316Asp
XR_945953.1:n.243-10177C>T
NM_001346440.1:c.3947G>A	NP_001333369.1:p.Gly1316Asp
NM_000124.4:c.3947G>A MANE Select	NP_000115.1:p.Gly1316Asp
NM_001346440.2:c.3947G>A	NP_001333369.1:p.Gly1316Asp