Canonical Allele Identifier: CA5495318
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300045
dbSNP Id: rs374791168

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470366T>C , CM000672.2:g.49470366T>C GRCh38
NC_000010.10:g.50678412T>C , CM000672.1:g.50678412T>C GRCh37
NC_000010.9:g.50348418T>C NCBI36
NG_009442.1:g.73736A>G , LRG_465:g.73736A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3594A>G MANE Select ENSP00000348089.5:p.Lys1198=
ENST00000679552.1:n.665A>G
ENST00000679871.1:n.740A>G
ENST00000679974.1:n.643A>G
ENST00000681632.1:n.4997A>G
ENST00000681659.1:c.3435A>G ENSP00000505631.1:p.Lys1145=
ENST00000355832.9:c.3594A>G ENSP00000348089.5:p.Lys1198=
ENST00000623073.3:c.*1890A>G ENSP00000485650.1:n.*1890A>G
ENST00000623115.3:c.1704A>G ENSP00000485321.1:p.Lys568=
ENST00000624341.3:c.1426A>G
NM_000124.3:c.3594A>G NP_000115.1:p.Lys1198=
XR_945953.1:n.243-1199T>C
NM_001346440.1:c.3594A>G NP_001333369.1:p.Lys1198=
NM_000124.4:c.3594A>G MANE Select NP_000115.1:p.Lys1198=
NM_001346440.2:c.3594A>G NP_001333369.1:p.Lys1198=