Canonical Allele Identifier: CA1908778509

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500577A= , CM000672.2:g.49500577A=	GRCh38
NC_000010.10:g.50708623A= , CM000672.1:g.50708623A=	GRCh37
NC_000010.9:g.50378629A=	NCBI36
NG_009442.1:g.43525T= , LRG_465:g.43525T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1646T= MANE Select	NP_000115.1:p.Leu549=
ENST00000355832.10:c.1646T= MANE Select	ENSP00000348089.5:p.Leu549=
NM_000124.3:c.1646T=	NP_000115.1:p.Leu549=
NM_001346440.1:c.1646T=	NP_001333369.1:p.Leu549=
NM_001346440.2:c.1646T=	NP_001333369.1:p.Leu549=
ENST00000355832.9:c.1646T=	ENSP00000348089.5:p.Leu549=
ENST00000475116.1:n.236T=
ENST00000623073.3:c.47T=	ENSP00000485650.1:p.Leu16=
ENST00000623115.3:c.-109T=	ENSP00000485321.1:n.-109T=
ENST00000623318.1:c.47T=	ENSP00000485423.1:p.Leu16=
ENST00000681632.1:n.1724T=
ENST00000681659.1:c.1526+5307T=	ENSP00000505631.1:n.1526+5307T=