Canonical Allele Identifier: CA2058964882

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1594234398
• gnomAD v4: 12-101786231-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786231C>A , CM000674.2:g.101786231C>A	GRCh38
NC_000012.11:g.102180009C>A , CM000674.1:g.102180009C>A	GRCh37
NC_000012.10:g.100704140C>A	NCBI36
NG_021243.1:g.49637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-14G>T MANE Select	ENSP00000299314.7:n.366-14G>T
ENST00000299314.11:c.366-14G>T	ENSP00000299314.7:n.366-14G>T
ENST00000549940.5:c.366-14G>T	ENSP00000449150.1:n.366-14G>T
ENST00000550352.1:n.160-14G>T
NM_024312.4:c.366-14G>T	NP_077288.2:n.366-14G>T
XM_006719593.2:c.366-14G>T	XP_006719656.1:n.366-14G>T
XM_011538731.1:c.285-14G>T	XP_011537033.1:n.285-14G>T
XM_006719593.3:c.366-14G>T	XP_006719656.1:n.366-14G>T
XM_011538731.2:c.285-14G>T	XP_011537033.1:n.285-14G>T
XM_017019961.1:c.150-14G>T	XP_016875450.1:n.150-14G>T
XM_017019962.2:c.-985-14G>T	XP_016875451.1:n.-985-14G>T
NM_024312.5:c.366-14G>T MANE Select	NP_077288.2:n.366-14G>T