Canonical Allele Identifier: CA481318452

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760048-G-T
• MyVariant Identifiers: chr12:g.102153826G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760048G>T , CM000674.2:g.101760048G>T	GRCh38
NC_000012.11:g.102153826G>T , CM000674.1:g.102153826G>T	GRCh37
NC_000012.10:g.100677957G>T	NCBI36
NG_021243.1:g.75820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3231C>A MANE Select	ENSP00000299314.7:p.Ser1077=
ENST00000299314.11:c.3231C>A	ENSP00000299314.7:p.Ser1077=
ENST00000549194.1:n.97C>A
ENST00000550718.1:c.43C>A
NM_024312.4:c.3231C>A	NP_077288.2:p.Ser1077=
XM_006719593.2:c.3231C>A	XP_006719656.1:p.Ser1077=
XM_011538731.1:c.3150C>A	XP_011537033.1:p.Ser1050=
XM_006719593.3:c.3231C>A	XP_006719656.1:p.Ser1077=
XM_011538731.2:c.3150C>A	XP_011537033.1:p.Ser1050=
XM_017019961.1:c.3015C>A	XP_016875450.1:p.Ser1005=
XM_017019962.2:c.2004C>A	XP_016875451.1:p.Ser668=
NM_024312.5:c.3231C>A MANE Select	NP_077288.2:p.Ser1077=