Canonical Allele Identifier: CA2058952152

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757160C= , CM000674.2:g.101757160C=	GRCh38
NC_000012.11:g.102150938C= , CM000674.1:g.102150938C=	GRCh37
NC_000012.10:g.100675069C=	NCBI36
NG_021243.1:g.78708G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3434+52G= MANE Select	ENSP00000299314.7:n.3434+52G=
ENST00000299314.11:c.3434+52G=	ENSP00000299314.7:n.3434+52G=
ENST00000549194.1:n.352G=
ENST00000549738.5:c.185+52G=	ENSP00000450161.1:n.185+52G=
ENST00000550718.1:c.246+52G=
NM_024312.4:c.3434+52G=	NP_077288.2:n.3434+52G=
XM_006719593.2:c.3434+52G=	XP_006719656.1:n.3434+52G=
XM_011538731.1:c.3353+52G=	XP_011537033.1:n.3353+52G=
XM_006719593.3:c.3434+52G=	XP_006719656.1:n.3434+52G=
XM_011538731.2:c.3353+52G=	XP_011537033.1:n.3353+52G=
XM_017019961.1:c.3218+52G=	XP_016875450.1:n.3218+52G=
XM_017019962.2:c.2207+52G=	XP_016875451.1:n.2207+52G=
NM_024312.5:c.3434+52G= MANE Select	NP_077288.2:n.3434+52G=