Canonical Allele Identifier: CA386294587

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1166573346
• gnomAD v4: 12-101760035-T-C
• MyVariant Identifiers: chr12:g.102153813T>C (hg19) ; chr12:g.101760035T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760035T>C , CM000674.2:g.101760035T>C	GRCh38
NC_000012.11:g.102153813T>C , CM000674.1:g.102153813T>C	GRCh37
NC_000012.10:g.100677944T>C	NCBI36
NG_021243.1:g.75833A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3244A>G MANE Select	ENSP00000299314.7:p.Asn1082Asp
ENST00000299314.11:c.3244A>G	ENSP00000299314.7:p.Asn1082Asp
ENST00000549194.1:n.110A>G
ENST00000550718.1:c.56A>G
NM_024312.4:c.3244A>G	NP_077288.2:p.Asn1082Asp
XM_006719593.2:c.3244A>G	XP_006719656.1:p.Asn1082Asp
XM_011538731.1:c.3163A>G	XP_011537033.1:p.Asn1055Asp
XM_006719593.3:c.3244A>G	XP_006719656.1:p.Asn1082Asp
XM_011538731.2:c.3163A>G	XP_011537033.1:p.Asn1055Asp
XM_017019961.1:c.3028A>G	XP_016875450.1:p.Asn1010Asp
XM_017019962.2:c.2017A>G	XP_016875451.1:p.Asn673Asp
NM_024312.5:c.3244A>G MANE Select	NP_077288.2:p.Asn1082Asp