Canonical Allele Identifier: CA376718351

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50680426G>T (hg19) ; chr10:g.49472380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472380G>T , CM000672.2:g.49472380G>T	GRCh38
NC_000010.10:g.50680426G>T , CM000672.1:g.50680426G>T	GRCh37
NC_000010.9:g.50350432G>T	NCBI36
NG_009442.1:g.71722C>A , LRG_465:g.71722C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2920C>A MANE Select	ENSP00000348089.5:p.His974Asn
ENST00000681632.1:n.4323C>A
ENST00000681659.1:c.2761C>A	ENSP00000505631.1:p.His921Asn
ENST00000355832.9:c.2920C>A	ENSP00000348089.5:p.His974Asn
ENST00000623073.3:c.*1216C>A	ENSP00000485650.1:n.*1216C>A
ENST00000623115.3:c.1030C>A	ENSP00000485321.1:p.His344Asn
ENST00000624341.3:c.752C>A
NM_000124.3:c.2920C>A	NP_000115.1:p.His974Asn
XR_945953.1:n.690-323G>T
NM_001346440.1:c.2920C>A	NP_001333369.1:p.His974Asn
NM_000124.4:c.2920C>A MANE Select	NP_000115.1:p.His974Asn
NM_001346440.2:c.2920C>A	NP_001333369.1:p.His974Asn