Canonical Allele Identifier: CA376718341

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50680424G>T (hg19) ; chr10:g.49472378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472378G>T , CM000672.2:g.49472378G>T	GRCh38
NC_000010.10:g.50680424G>T , CM000672.1:g.50680424G>T	GRCh37
NC_000010.9:g.50350430G>T	NCBI36
NG_009442.1:g.71724C>A , LRG_465:g.71724C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2922C>A MANE Select	ENSP00000348089.5:p.His974Gln
ENST00000681632.1:n.4325C>A
ENST00000681659.1:c.2763C>A	ENSP00000505631.1:p.His921Gln
ENST00000355832.9:c.2922C>A	ENSP00000348089.5:p.His974Gln
ENST00000623073.3:c.*1218C>A	ENSP00000485650.1:n.*1218C>A
ENST00000623115.3:c.1032C>A	ENSP00000485321.1:p.His344Gln
ENST00000624341.3:c.754C>A
NM_000124.3:c.2922C>A	NP_000115.1:p.His974Gln
XR_945953.1:n.690-325G>T
NM_001346440.1:c.2922C>A	NP_001333369.1:p.His974Gln
NM_000124.4:c.2922C>A MANE Select	NP_000115.1:p.His974Gln
NM_001346440.2:c.2922C>A	NP_001333369.1:p.His974Gln