Canonical Allele Identifier: CA2058966567

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101790019C= , CM000674.2:g.101790019C=	GRCh38
NC_000012.11:g.102183797C= , CM000674.1:g.102183797C=	GRCh37
NC_000012.10:g.100707928C=	NCBI36
NG_021243.1:g.45849G=

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.242G= MANE Select	NP_077288.2:p.Trp81=
ENST00000299314.12:c.242G= MANE Select	ENSP00000299314.7:p.Trp81=
NM_024312.4:c.242G=	NP_077288.2:p.Trp81=
ENST00000299314.11:c.242G=	ENSP00000299314.7:p.Trp81=
ENST00000549940.5:c.242G=	ENSP00000449150.1:p.Trp81=
ENST00000550352.1:n.36G=
XM_006719593.2:c.242G=	XP_006719656.1:p.Trp81=
XM_006719593.3:c.242G=	XP_006719656.1:p.Trp81=
XM_011538731.1:c.161G=	XP_011537033.1:p.Trp54=
XM_011538731.2:c.161G=	XP_011537033.1:p.Trp54=
XM_017019961.1:c.26G=	XP_016875450.1:p.Trp9=
XM_017019962.2:c.-1109G=	XP_016875451.1:n.-1109G=