Canonical Allele Identifier: CA481576823

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1394121391
• gnomAD v2: 12-102155479-T-C
• gnomAD v4: 12-101761701-T-C
• MyVariant Identifiers: chr12:g.102155479T>C (hg19) ; chr12:g.101761701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761701T>C , CM000674.2:g.101761701T>C	GRCh38
NC_000012.11:g.102155479T>C , CM000674.1:g.102155479T>C	GRCh37
NC_000012.10:g.100679610T>C	NCBI36
NG_021243.1:g.74167A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2778A>G MANE Select	ENSP00000299314.7:p.Gln926=
ENST00000299314.11:c.2778A>G	ENSP00000299314.7:p.Gln926=
NM_024312.4:c.2778A>G	NP_077288.2:p.Gln926=
XM_006719593.2:c.2778A>G	XP_006719656.1:p.Gln926=
XM_011538731.1:c.2697A>G	XP_011537033.1:p.Gln899=
XM_006719593.3:c.2778A>G	XP_006719656.1:p.Gln926=
XM_011538731.2:c.2697A>G	XP_011537033.1:p.Gln899=
XM_017019961.1:c.2562A>G	XP_016875450.1:p.Gln854=
XM_017019962.2:c.1551A>G	XP_016875451.1:p.Gln517=
NM_024312.5:c.2778A>G MANE Select	NP_077288.2:p.Gln926=