Canonical Allele Identifier: CA386305757

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1869315308
• gnomAD v3: 12-101796729-C-T
• gnomAD v4: 12-101796729-C-T
• MyVariant Identifiers: chr12:g.102190507C>T (hg19) ; chr12:g.101796729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796729C>T , CM000674.2:g.101796729C>T	GRCh38
NC_000012.11:g.102190507C>T , CM000674.1:g.102190507C>T	GRCh37
NC_000012.10:g.100714638C>T	NCBI36
NG_021243.1:g.39139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.151G>A MANE Select	ENSP00000299314.7:p.Val51Ile
ENST00000647144.1:n.271G>A
ENST00000299314.11:c.151G>A	ENSP00000299314.7:p.Val51Ile
ENST00000392919.4:c.151G>A	ENSP00000376651.4:p.Val51Ile
ENST00000549165.1:c.151G>A	ENSP00000450413.1:p.Val51Ile
ENST00000549940.5:c.151G>A	ENSP00000449150.1:p.Val51Ile
NM_024312.4:c.151G>A	NP_077288.2:p.Val51Ile
XM_006719593.2:c.151G>A	XP_006719656.1:p.Val51Ile
XM_011538731.1:c.70G>A	XP_011537033.1:p.Val24Ile
XM_006719593.3:c.151G>A	XP_006719656.1:p.Val51Ile
XM_011538731.2:c.70G>A	XP_011537033.1:p.Val24Ile
XM_017019961.1:c.-66G>A	XP_016875450.1:n.-66G>A
XM_017019962.2:c.-1200G>A	XP_016875451.1:n.-1200G>A
NM_024312.5:c.151G>A MANE Select	NP_077288.2:p.Val51Ile