Canonical Allele Identifier: CA376718339

Gene: ERCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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