Canonical Allele Identifier: CA469600282

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2000957
• ClinVar RCV Id: RCV002810770
• dbSNP Id: rs1850579038
• gnomAD v4: 10-49461381-C-T
• MyVariant Identifiers: chr10:g.50669427C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461381C>T , CM000672.2:g.49461381C>T	GRCh38
NC_000010.10:g.50669427C>T , CM000672.1:g.50669427C>T	GRCh37
NC_000010.9:g.50339433C>T	NCBI36
NG_009442.1:g.82721G>A , LRG_465:g.82721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3954G>A MANE Select	ENSP00000348089.5:p.Arg1318=
ENST00000679552.1:n.1025G>A
ENST00000679871.1:n.1100G>A
ENST00000679974.1:n.1003G>A
ENST00000681632.1:n.5357G>A
ENST00000681659.1:c.3795G>A	ENSP00000505631.1:p.Arg1265=
ENST00000355832.9:c.3954G>A	ENSP00000348089.5:p.Arg1318=
ENST00000465653.1:n.276G>A
ENST00000623073.3:c.*2250G>A	ENSP00000485650.1:n.*2250G>A
ENST00000623115.3:c.2064G>A	ENSP00000485321.1:p.Arg688=
ENST00000624341.3:c.1786G>A
NM_000124.3:c.3954G>A	NP_000115.1:p.Arg1318=
XR_945953.1:n.243-10184C>T
NM_001346440.1:c.3954G>A	NP_001333369.1:p.Arg1318=
NM_000124.4:c.3954G>A MANE Select	NP_000115.1:p.Arg1318=
NM_001346440.2:c.3954G>A	NP_001333369.1:p.Arg1318=