Canonical Allele Identifier: CA376718347

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49472380-G-A
• MyVariant Identifiers: chr10:g.50680426G>A (hg19) ; chr10:g.49472380G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2920C>T MANE Select	ENSP00000348089.5:p.His974Tyr
ENST00000681632.1:n.4323C>T
ENST00000681659.1:c.2761C>T	ENSP00000505631.1:p.His921Tyr
ENST00000355832.9:c.2920C>T	ENSP00000348089.5:p.His974Tyr
ENST00000623073.3:c.*1216C>T	ENSP00000485650.1:n.*1216C>T
ENST00000623115.3:c.1030C>T	ENSP00000485321.1:p.His344Tyr
ENST00000624341.3:c.752C>T
NM_000124.3:c.2920C>T	NP_000115.1:p.His974Tyr
XR_945953.1:n.690-323G>A
NM_001346440.1:c.2920C>T	NP_001333369.1:p.His974Tyr
NM_000124.4:c.2920C>T MANE Select	NP_000115.1:p.His974Tyr
NM_001346440.2:c.2920C>T	NP_001333369.1:p.His974Tyr