Canonical Allele Identifier: CA2843478667

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753358A>G , CM000674.2:g.101753358A>G	GRCh38
NC_000012.11:g.102147136A>G , CM000674.1:g.102147136A>G	GRCh37
NC_000012.10:g.100671267A>G	NCBI36
NG_021243.1:g.82510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3602+14T>C MANE Select	ENSP00000299314.7:n.3602+14T>C
ENST00000299314.11:c.3602+14T>C	ENSP00000299314.7:n.3602+14T>C
ENST00000549738.5:c.500+14T>C	ENSP00000450161.1:n.500+14T>C
NM_024312.4:c.3602+14T>C	NP_077288.2:n.3602+14T>C
XM_011538731.1:c.3521+14T>C	XP_011537033.1:n.3521+14T>C
XM_011538731.2:c.3521+14T>C	XP_011537033.1:n.3521+14T>C
XM_017019961.1:c.3386+14T>C	XP_016875450.1:n.3386+14T>C
XM_017019962.2:c.2375+14T>C	XP_016875451.1:n.2375+14T>C
NM_024312.5:c.3602+14T>C MANE Select	NP_077288.2:n.3602+14T>C