Canonical Allele Identifier: CA2797216499

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830769G>T , CM000674.2:g.101830769G>T	GRCh38
NC_000012.11:g.102224547G>T , CM000674.1:g.102224547G>T	GRCh37
NC_000012.10:g.100748678G>T	NCBI36
NG_021243.1:g.5099C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-94C>A MANE Select	ENSP00000299314.7:n.-94C>A
ENST00000299314.11:c.-94C>A	ENSP00000299314.7:n.-94C>A
ENST00000392919.4:c.-94C>A	ENSP00000376651.4:n.-94C>A
ENST00000549940.5:c.-94C>A	ENSP00000449150.1:n.-94C>A
NM_024312.4:c.-94C>A	NP_077288.2:n.-94C>A
XM_006719593.2:c.-94C>A	XP_006719656.1:n.-94C>A
XM_006719593.3:c.-94C>A	XP_006719656.1:n.-94C>A
XM_017019961.1:c.-243C>A	XP_016875450.1:n.-243C>A
XM_017019962.2:c.-1444C>A	XP_016875451.1:n.-1444C>A
NM_024312.5:c.-94C>A MANE Select	NP_077288.2:n.-94C>A