Canonical Allele Identifier: CA6746200

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2946783
• ClinVar RCV Id: RCV003809021
• dbSNP Id: rs768943595
• ExAC: 12:102151382 G / A
• gnomAD v2: 12-102151382-G-A
• gnomAD v4: 12-101757604-G-A
• MyVariant Identifiers: chr12:g.102151382G>A (hg19) ; chr12:g.101757604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757604G>A , CM000674.2:g.101757604G>A	GRCh38
NC_000012.11:g.102151382G>A , CM000674.1:g.102151382G>A	GRCh37
NC_000012.10:g.100675513G>A	NCBI36
NG_021243.1:g.78264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3303C>T MANE Select	ENSP00000299314.7:p.Ile1101=
ENST00000299314.11:c.3303C>T	ENSP00000299314.7:p.Ile1101=
ENST00000549194.1:n.169C>T
ENST00000549738.5:c.54C>T	ENSP00000450161.1:p.Ile18=
ENST00000550718.1:c.115C>T
NM_024312.4:c.3303C>T	NP_077288.2:p.Ile1101=
XM_006719593.2:c.3303C>T	XP_006719656.1:p.Ile1101=
XM_011538731.1:c.3222C>T	XP_011537033.1:p.Ile1074=
XM_006719593.3:c.3303C>T	XP_006719656.1:p.Ile1101=
XM_011538731.2:c.3222C>T	XP_011537033.1:p.Ile1074=
XM_017019961.1:c.3087C>T	XP_016875450.1:p.Ile1029=
XM_017019962.2:c.2076C>T	XP_016875451.1:p.Ile692=
NM_024312.5:c.3303C>T MANE Select	NP_077288.2:p.Ile1101=