Canonical Allele Identifier: CA481317620

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101753446-G-A
• MyVariant Identifiers: chr12:g.102147224G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753446G>A , CM000674.2:g.101753446G>A	GRCh38
NC_000012.11:g.102147224G>A , CM000674.1:g.102147224G>A	GRCh37
NC_000012.10:g.100671355G>A	NCBI36
NG_021243.1:g.82422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3528C>T MANE Select	ENSP00000299314.7:p.Phe1176=
ENST00000299314.11:c.3528C>T	ENSP00000299314.7:p.Phe1176=
ENST00000549738.5:c.426C>T	ENSP00000450161.1:n.426C>T
NM_024312.4:c.3528C>T	NP_077288.2:p.Phe1176=
XM_011538731.1:c.3447C>T	XP_011537033.1:p.Phe1149=
XM_011538731.2:c.3447C>T	XP_011537033.1:p.Phe1149=
XM_017019961.1:c.3312C>T	XP_016875450.1:p.Phe1104=
XM_017019962.2:c.2301C>T	XP_016875451.1:p.Phe767=
NM_024312.5:c.3528C>T MANE Select	NP_077288.2:p.Phe1176=