Canonical Allele Identifier: CA376712848

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678315A>T (hg19) ; chr10:g.49470269A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470269A>T , CM000672.2:g.49470269A>T	GRCh38
NC_000010.10:g.50678315A>T , CM000672.1:g.50678315A>T	GRCh37
NC_000010.9:g.50348321A>T	NCBI36
NG_009442.1:g.73833T>A , LRG_465:g.73833T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3691T>A MANE Select	ENSP00000348089.5:p.Tyr1231Asn
ENST00000679552.1:n.762T>A
ENST00000679871.1:n.837T>A
ENST00000679974.1:n.740T>A
ENST00000681632.1:n.5094T>A
ENST00000681659.1:c.3532T>A	ENSP00000505631.1:p.Tyr1178Asn
ENST00000355832.9:c.3691T>A	ENSP00000348089.5:p.Tyr1231Asn
ENST00000465653.1:n.13T>A
ENST00000623073.3:c.*1987T>A	ENSP00000485650.1:n.*1987T>A
ENST00000623115.3:c.1801T>A	ENSP00000485321.1:p.Tyr601Asn
ENST00000624341.3:c.1523T>A
NM_000124.3:c.3691T>A	NP_000115.1:p.Tyr1231Asn
XR_945953.1:n.243-1296A>T
NM_001346440.1:c.3691T>A	NP_001333369.1:p.Tyr1231Asn
NM_000124.4:c.3691T>A MANE Select	NP_000115.1:p.Tyr1231Asn
NM_001346440.2:c.3691T>A	NP_001333369.1:p.Tyr1231Asn