Canonical Allele Identifier: CA386294942

Gene: GNPTAB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3143C>T MANE Select	ENSP00000299314.7:p.Thr1048Ile
ENST00000299314.11:c.3143C>T	ENSP00000299314.7:p.Thr1048Ile
ENST00000549194.1:n.9C>T
NM_024312.4:c.3143C>T	NP_077288.2:p.Thr1048Ile
XM_006719593.2:c.3143C>T	XP_006719656.1:p.Thr1048Ile
XM_011538731.1:c.3062C>T	XP_011537033.1:p.Thr1021Ile
XM_006719593.3:c.3143C>T	XP_006719656.1:p.Thr1048Ile
XM_011538731.2:c.3062C>T	XP_011537033.1:p.Thr1021Ile
XM_017019961.1:c.2927C>T	XP_016875450.1:p.Thr976Ile
XM_017019962.2:c.1916C>T	XP_016875451.1:p.Thr639Ile
NM_024312.5:c.3143C>T MANE Select	NP_077288.2:p.Thr1048Ile