Canonical Allele Identifier: CA2581100830

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753310T>A , CM000674.2:g.101753310T>A	GRCh38
NC_000012.11:g.102147088T>A , CM000674.1:g.102147088T>A	GRCh37
NC_000012.10:g.100671219T>A	NCBI36
NG_021243.1:g.82558A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+62A>T MANE Select	ENSP00000299314.7:n.3602+62A>T
ENST00000299314.11:c.3602+62A>T	ENSP00000299314.7:n.3602+62A>T
ENST00000549738.5:c.500+62A>T	ENSP00000450161.1:n.500+62A>T
NM_024312.4:c.3602+62A>T	NP_077288.2:n.3602+62A>T
XM_011538731.1:c.3521+62A>T	XP_011537033.1:n.3521+62A>T
XM_011538731.2:c.3521+62A>T	XP_011537033.1:n.3521+62A>T
XM_017019961.1:c.3386+62A>T	XP_016875450.1:n.3386+62A>T
XM_017019962.2:c.2375+62A>T	XP_016875451.1:n.2375+62A>T
NM_024312.5:c.3602+62A>T MANE Select	NP_077288.2:n.3602+62A>T