Canonical Allele Identifier: CA481318166

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151412T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757634T>A , CM000674.2:g.101757634T>A	GRCh38
NC_000012.11:g.102151412T>A , CM000674.1:g.102151412T>A	GRCh37
NC_000012.10:g.100675543T>A	NCBI36
NG_021243.1:g.78234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3273A>T MANE Select	ENSP00000299314.7:p.Val1091=
ENST00000299314.11:c.3273A>T	ENSP00000299314.7:p.Val1091=
ENST00000549194.1:n.139A>T
ENST00000549738.5:c.24A>T	ENSP00000450161.1:p.Val8=
ENST00000550718.1:c.85A>T
NM_024312.4:c.3273A>T	NP_077288.2:p.Val1091=
XM_006719593.2:c.3273A>T	XP_006719656.1:p.Val1091=
XM_011538731.1:c.3192A>T	XP_011537033.1:p.Val1064=
XM_006719593.3:c.3273A>T	XP_006719656.1:p.Val1091=
XM_011538731.2:c.3192A>T	XP_011537033.1:p.Val1064=
XM_017019961.1:c.3057A>T	XP_016875450.1:p.Val1019=
XM_017019962.2:c.2046A>T	XP_016875451.1:p.Val682=
NM_024312.5:c.3273A>T MANE Select	NP_077288.2:p.Val1091=