Canonical Allele Identifier: CA376718374

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50680431A>T (hg19) ; chr10:g.49472385A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472385A>T , CM000672.2:g.49472385A>T	GRCh38
NC_000010.10:g.50680431A>T , CM000672.1:g.50680431A>T	GRCh37
NC_000010.9:g.50350437A>T	NCBI36
NG_009442.1:g.71717T>A , LRG_465:g.71717T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2915T>A MANE Select	ENSP00000348089.5:p.Ile972Asn
ENST00000681632.1:n.4318T>A
ENST00000681659.1:c.2756T>A	ENSP00000505631.1:p.Ile919Asn
ENST00000355832.9:c.2915T>A	ENSP00000348089.5:p.Ile972Asn
ENST00000623073.3:c.*1211T>A	ENSP00000485650.1:n.*1211T>A
ENST00000623115.3:c.1025T>A	ENSP00000485321.1:p.Ile342Asn
ENST00000624341.3:c.747T>A
NM_000124.3:c.2915T>A	NP_000115.1:p.Ile972Asn
XR_945953.1:n.690-318A>T
NM_001346440.1:c.2915T>A	NP_001333369.1:p.Ile972Asn
NM_000124.4:c.2915T>A MANE Select	NP_000115.1:p.Ile972Asn
NM_001346440.2:c.2915T>A	NP_001333369.1:p.Ile972Asn