Canonical Allele Identifier: CA386294945

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760136-G-T
• MyVariant Identifiers: chr12:g.102153914G>T (hg19) ; chr12:g.101760136G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760136G>T , CM000674.2:g.101760136G>T	GRCh38
NC_000012.11:g.102153914G>T , CM000674.1:g.102153914G>T	GRCh37
NC_000012.10:g.100678045G>T	NCBI36
NG_021243.1:g.75732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3143C>A MANE Select	ENSP00000299314.7:p.Thr1048Lys
ENST00000299314.11:c.3143C>A	ENSP00000299314.7:p.Thr1048Lys
ENST00000549194.1:n.9C>A
NM_024312.4:c.3143C>A	NP_077288.2:p.Thr1048Lys
XM_006719593.2:c.3143C>A	XP_006719656.1:p.Thr1048Lys
XM_011538731.1:c.3062C>A	XP_011537033.1:p.Thr1021Lys
XM_006719593.3:c.3143C>A	XP_006719656.1:p.Thr1048Lys
XM_011538731.2:c.3062C>A	XP_011537033.1:p.Thr1021Lys
XM_017019961.1:c.2927C>A	XP_016875450.1:p.Thr976Lys
XM_017019962.2:c.1916C>A	XP_016875451.1:p.Thr639Lys
NM_024312.5:c.3143C>A MANE Select	NP_077288.2:p.Thr1048Lys