Canonical Allele Identifier: CA10635860

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300025
• ClinVar RCV Id: RCV000304384 ; RCV000363685 ; RCV000394991
• dbSNP Id: rs886047028
• MyVariant Identifiers: chr10:g.50666379G>T (hg19) ; chr10:g.49458333G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49458333G>T , CM000672.2:g.49458333G>T	GRCh38
NC_000010.10:g.50666379G>T , CM000672.1:g.50666379G>T	GRCh37
NC_000010.9:g.50336385G>T	NCBI36
NG_009442.1:g.85769C>A , LRG_465:g.85769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.*482C>A MANE Select	ENSP00000348089.5:n.*482C>A
ENST00000679552.1:n.3173C>A
ENST00000679871.1:n.2110C>A
ENST00000679974.1:n.2013C>A
ENST00000681632.1:n.6367C>A
ENST00000681659.1:c.*482C>A	ENSP00000505631.1:n.*482C>A
ENST00000355832.9:c.*482C>A	ENSP00000348089.5:n.*482C>A
ENST00000623073.3:c.*3260C>A	ENSP00000485650.1:n.*3260C>A
ENST00000624341.3:c.2796C>A
NM_000124.3:c.*482C>A	NP_000115.1:n.*482C>A
XR_945953.1:n.243-13232G>T
NM_001346440.1:c.*482C>A	NP_001333369.1:n.*482C>A
NM_000124.4:c.*482C>A MANE Select	NP_000115.1:n.*482C>A
NM_001346440.2:c.*482C>A	NP_001333369.1:n.*482C>A