Canonical Allele Identifier: CA481318913

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952987216
• gnomAD v3: 12-101761223-G-C
• gnomAD v4: 12-101761223-G-C
• MyVariant Identifiers: chr12:g.102155001G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761223G>C , CM000674.2:g.101761223G>C	GRCh38
NC_000012.11:g.102155001G>C , CM000674.1:g.102155001G>C	GRCh37
NC_000012.10:g.100679132G>C	NCBI36
NG_021243.1:g.74645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3039C>G MANE Select	ENSP00000299314.7:p.Val1013=
ENST00000299314.11:c.3039C>G	ENSP00000299314.7:p.Val1013=
NM_024312.4:c.3039C>G	NP_077288.2:p.Val1013=
XM_006719593.2:c.3039C>G	XP_006719656.1:p.Val1013=
XM_011538731.1:c.2958C>G	XP_011537033.1:p.Val986=
XM_006719593.3:c.3039C>G	XP_006719656.1:p.Val1013=
XM_011538731.2:c.2958C>G	XP_011537033.1:p.Val986=
XM_017019961.1:c.2823C>G	XP_016875450.1:p.Val941=
XM_017019962.2:c.1812C>G	XP_016875451.1:p.Val604=
NM_024312.5:c.3039C>G MANE Select	NP_077288.2:p.Val1013=