Canonical Allele Identifier: CA481577230

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2018832
• ClinVar RCV Id: RCV002870913
• MyVariant Identifiers: chr12:g.102158607G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764829G>A , CM000674.2:g.101764829G>A	GRCh38
NC_000012.11:g.102158607G>A , CM000674.1:g.102158607G>A	GRCh37
NC_000012.10:g.100682738G>A	NCBI36
NG_021243.1:g.71039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2088C>T MANE Select	ENSP00000299314.7:p.Pro696=
ENST00000299314.11:c.2088C>T	ENSP00000299314.7:p.Pro696=
NM_024312.4:c.2088C>T	NP_077288.2:p.Pro696=
XM_006719593.2:c.2088C>T	XP_006719656.1:p.Pro696=
XM_011538731.1:c.2007C>T	XP_011537033.1:p.Pro669=
XM_006719593.3:c.2088C>T	XP_006719656.1:p.Pro696=
XM_011538731.2:c.2007C>T	XP_011537033.1:p.Pro669=
XM_017019961.1:c.1872C>T	XP_016875450.1:p.Pro624=
XM_017019962.2:c.861C>T	XP_016875451.1:p.Pro287=
NM_024312.5:c.2088C>T MANE Select	NP_077288.2:p.Pro696=