Canonical Allele Identifier: CA469789066

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2134005
• ClinVar RCV Id: RCV003044713
• MyVariant Identifiers: chr10:g.50678808G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470762G>A , CM000672.2:g.49470762G>A	GRCh38
NC_000010.10:g.50678808G>A , CM000672.1:g.50678808G>A	GRCh37
NC_000010.9:g.50348814G>A	NCBI36
NG_009442.1:g.73340C>T , LRG_465:g.73340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3198C>T MANE Select	ENSP00000348089.5:p.Ala1066=
ENST00000679552.1:n.269C>T
ENST00000679871.1:n.344C>T
ENST00000679974.1:n.247C>T
ENST00000681632.1:n.4601C>T
ENST00000681659.1:c.3039C>T	ENSP00000505631.1:p.Ala1013=
ENST00000355832.9:c.3198C>T	ENSP00000348089.5:p.Ala1066=
ENST00000623073.3:c.*1494C>T	ENSP00000485650.1:n.*1494C>T
ENST00000623115.3:c.1308C>T	ENSP00000485321.1:p.Ala436=
ENST00000624341.3:c.1030C>T
NM_000124.3:c.3198C>T	NP_000115.1:p.Ala1066=
XR_945953.1:n.243-803G>A
NM_001346440.1:c.3198C>T	NP_001333369.1:p.Ala1066=
NM_000124.4:c.3198C>T MANE Select	NP_000115.1:p.Ala1066=
NM_001346440.2:c.3198C>T	NP_001333369.1:p.Ala1066=