Canonical Allele Identifier: CA481317512

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952850711
• gnomAD v3: 12-101753380-C-G
• gnomAD v4: 12-101753380-C-G
• MyVariant Identifiers: chr12:g.102147158C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753380C>G , CM000674.2:g.101753380C>G	GRCh38
NC_000012.11:g.102147158C>G , CM000674.1:g.102147158C>G	GRCh37
NC_000012.10:g.100671289C>G	NCBI36
NG_021243.1:g.82488G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3594G>C MANE Select	ENSP00000299314.7:p.Leu1198=
ENST00000299314.11:c.3594G>C	ENSP00000299314.7:p.Leu1198=
ENST00000549738.5:c.492G>C	ENSP00000450161.1:n.492G>C
NM_024312.4:c.3594G>C	NP_077288.2:p.Leu1198=
XM_011538731.1:c.3513G>C	XP_011537033.1:p.Leu1171=
XM_011538731.2:c.3513G>C	XP_011537033.1:p.Leu1171=
XM_017019961.1:c.3378G>C	XP_016875450.1:p.Leu1126=
XM_017019962.2:c.2367G>C	XP_016875451.1:p.Leu789=
NM_024312.5:c.3594G>C MANE Select	NP_077288.2:p.Leu1198=