Canonical Allele Identifier: CA481318138

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757613-A-G
• MyVariant Identifiers: chr12:g.102151391A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757613A>G , CM000674.2:g.101757613A>G	GRCh38
NC_000012.11:g.102151391A>G , CM000674.1:g.102151391A>G	GRCh37
NC_000012.10:g.100675522A>G	NCBI36
NG_021243.1:g.78255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3294T>C MANE Select	ENSP00000299314.7:p.Thr1098=
ENST00000299314.11:c.3294T>C	ENSP00000299314.7:p.Thr1098=
ENST00000549194.1:n.160T>C
ENST00000549738.5:c.45T>C	ENSP00000450161.1:p.Thr15=
ENST00000550718.1:c.106T>C
NM_024312.4:c.3294T>C	NP_077288.2:p.Thr1098=
XM_006719593.2:c.3294T>C	XP_006719656.1:p.Thr1098=
XM_011538731.1:c.3213T>C	XP_011537033.1:p.Thr1071=
XM_006719593.3:c.3294T>C	XP_006719656.1:p.Thr1098=
XM_011538731.2:c.3213T>C	XP_011537033.1:p.Thr1071=
XM_017019961.1:c.3078T>C	XP_016875450.1:p.Thr1026=
XM_017019962.2:c.2067T>C	XP_016875451.1:p.Thr689=
NM_024312.5:c.3294T>C MANE Select	NP_077288.2:p.Thr1098=