Canonical Allele Identifier: CA376724298

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690815T>A (hg19) ; chr10:g.49482769T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482769T>A , CM000672.2:g.49482769T>A	GRCh38
NC_000010.10:g.50690815T>A , CM000672.1:g.50690815T>A	GRCh37
NC_000010.9:g.50360821T>A	NCBI36
NG_009442.1:g.61333A>T , LRG_465:g.61333A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2087A>T MANE Select	ENSP00000348089.5:p.Lys696Met
ENST00000681632.1:n.2165A>T
ENST00000681659.1:c.1928A>T	ENSP00000505631.1:p.Lys643Met
ENST00000355832.9:c.2087A>T	ENSP00000348089.5:p.Lys696Met
ENST00000623073.3:c.*479A>T	ENSP00000485650.1:n.*479A>T
ENST00000623115.3:c.197A>T	ENSP00000485321.1:p.Lys66Met
NM_000124.3:c.2087A>T	NP_000115.1:p.Lys696Met
NM_001346440.1:c.2087A>T	NP_001333369.1:p.Lys696Met
NM_000124.4:c.2087A>T MANE Select	NP_000115.1:p.Lys696Met
NM_001346440.2:c.2087A>T	NP_001333369.1:p.Lys696Met