Canonical Allele Identifier: CA376718649

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50680499C>T (hg19) ; chr10:g.49472453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472453C>T , CM000672.2:g.49472453C>T	GRCh38
NC_000010.10:g.50680499C>T , CM000672.1:g.50680499C>T	GRCh37
NC_000010.9:g.50350505C>T	NCBI36
NG_009442.1:g.71649G>A , LRG_465:g.71649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2847G>A MANE Select	ENSP00000348089.5:p.Trp949Ter
ENST00000681632.1:n.4250G>A
ENST00000681659.1:c.2688G>A	ENSP00000505631.1:p.Trp896Ter
ENST00000355832.9:c.2847G>A	ENSP00000348089.5:p.Trp949Ter
ENST00000623073.3:c.*1143G>A	ENSP00000485650.1:n.*1143G>A
ENST00000623115.3:c.957G>A	ENSP00000485321.1:p.Trp319Ter
ENST00000624341.3:c.679G>A
NM_000124.3:c.2847G>A	NP_000115.1:p.Trp949Ter
XR_945953.1:n.690-250C>T
NM_001346440.1:c.2847G>A	NP_001333369.1:p.Trp949Ter
NM_000124.4:c.2847G>A MANE Select	NP_000115.1:p.Trp949Ter
NM_001346440.2:c.2847G>A	NP_001333369.1:p.Trp949Ter