Canonical Allele Identifier: CA2575265067

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770307-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770307G>A , CM000674.2:g.101770307G>A	GRCh38
NC_000012.11:g.102164085G>A , CM000674.1:g.102164085G>A	GRCh37
NC_000012.10:g.100688216G>A	NCBI36
NG_021243.1:g.65561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1113+99C>T MANE Select	ENSP00000299314.7:n.1113+99C>T
ENST00000299314.11:c.1113+99C>T	ENSP00000299314.7:n.1113+99C>T
ENST00000549940.5:c.1113+99C>T	ENSP00000449150.1:n.1113+99C>T
NM_024312.4:c.1113+99C>T	NP_077288.2:n.1113+99C>T
XM_006719593.2:c.1113+99C>T	XP_006719656.1:n.1113+99C>T
XM_011538731.1:c.1032+99C>T	XP_011537033.1:n.1032+99C>T
XM_006719593.3:c.1113+99C>T	XP_006719656.1:n.1113+99C>T
XM_011538731.2:c.1032+99C>T	XP_011537033.1:n.1032+99C>T
XM_017019961.1:c.897+99C>T	XP_016875450.1:n.897+99C>T
XM_017019962.2:c.-115+99C>T	XP_016875451.1:n.-115+99C>T
NM_024312.5:c.1113+99C>T MANE Select	NP_077288.2:n.1113+99C>T