Canonical Allele Identifier: CA376724803

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483399C>T , CM000672.2:g.49483399C>T	GRCh38
NC_000010.10:g.50691445C>T , CM000672.1:g.50691445C>T	GRCh37
NC_000010.9:g.50361451C>T	NCBI36
NG_009442.1:g.60703G>A , LRG_465:g.60703G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1939G>A MANE Select	NP_000115.1:p.Glu647Lys
ENST00000355832.10:c.1939G>A MANE Select	ENSP00000348089.5:p.Glu647Lys
NM_000124.3:c.1939G>A	NP_000115.1:p.Glu647Lys
NM_001346440.1:c.1939G>A	NP_001333369.1:p.Glu647Lys
NM_001346440.2:c.1939G>A	NP_001333369.1:p.Glu647Lys
ENST00000355832.9:c.1939G>A	ENSP00000348089.5:p.Glu647Lys
ENST00000475116.1:n.393G>A
ENST00000623073.3:c.*331G>A	ENSP00000485650.1:n.*331G>A
ENST00000623115.3:c.49G>A	ENSP00000485321.1:p.Glu17Lys
ENST00000623318.1:c.340G>A	ENSP00000485423.1:p.Glu114Lys
ENST00000681632.1:n.2017G>A
ENST00000681659.1:c.1780G>A	ENSP00000505631.1:p.Glu594Lys