Canonical Allele Identifier: CA481317567

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147197T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753419T>A , CM000674.2:g.101753419T>A	GRCh38
NC_000012.11:g.102147197T>A , CM000674.1:g.102147197T>A	GRCh37
NC_000012.10:g.100671328T>A	NCBI36
NG_021243.1:g.82449A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3555A>T MANE Select	ENSP00000299314.7:p.Pro1185=
ENST00000299314.11:c.3555A>T	ENSP00000299314.7:p.Pro1185=
ENST00000549738.5:c.453A>T	ENSP00000450161.1:n.453A>T
NM_024312.4:c.3555A>T	NP_077288.2:p.Pro1185=
XM_011538731.1:c.3474A>T	XP_011537033.1:p.Pro1158=
XM_011538731.2:c.3474A>T	XP_011537033.1:p.Pro1158=
XM_017019961.1:c.3339A>T	XP_016875450.1:p.Pro1113=
XM_017019962.2:c.2328A>T	XP_016875451.1:p.Pro776=
NM_024312.5:c.3555A>T MANE Select	NP_077288.2:p.Pro1185=