Canonical Allele Identifier: CA386305073

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1467284350
• gnomAD v4: 12-101786158-T-C
• MyVariant Identifiers: chr12:g.102179936T>C (hg19) ; chr12:g.101786158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786158T>C , CM000674.2:g.101786158T>C	GRCh38
NC_000012.11:g.102179936T>C , CM000674.1:g.102179936T>C	GRCh37
NC_000012.10:g.100704067T>C	NCBI36
NG_021243.1:g.49710A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.425A>G MANE Select	ENSP00000299314.7:p.Asp142Gly
ENST00000299314.11:c.425A>G	ENSP00000299314.7:p.Asp142Gly
ENST00000549940.5:c.425A>G	ENSP00000449150.1:p.Asp142Gly
ENST00000550352.1:n.219A>G
ENST00000552681.1:c.59A>G	ENSP00000449217.1:p.Asp20Gly
NM_024312.4:c.425A>G	NP_077288.2:p.Asp142Gly
XM_006719593.2:c.425A>G	XP_006719656.1:p.Asp142Gly
XM_011538731.1:c.344A>G	XP_011537033.1:p.Asp115Gly
XM_006719593.3:c.425A>G	XP_006719656.1:p.Asp142Gly
XM_011538731.2:c.344A>G	XP_011537033.1:p.Asp115Gly
XM_017019961.1:c.209A>G	XP_016875450.1:p.Asp70Gly
XM_017019962.2:c.-926A>G	XP_016875451.1:n.-926A>G
NM_024312.5:c.425A>G MANE Select	NP_077288.2:p.Asp142Gly