Canonical Allele Identifier: CA2575264900

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757514G>A , CM000674.2:g.101757514G>A	GRCh38
NC_000012.11:g.102151292G>A , CM000674.1:g.102151292G>A	GRCh37
NC_000012.10:g.100675423G>A	NCBI36
NG_021243.1:g.78354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+58C>T MANE Select	ENSP00000299314.7:n.3335+58C>T
ENST00000299314.11:c.3335+58C>T	ENSP00000299314.7:n.3335+58C>T
ENST00000549194.1:n.201+58C>T
ENST00000549738.5:c.86+58C>T	ENSP00000450161.1:n.86+58C>T
ENST00000550718.1:c.147+58C>T
NM_024312.4:c.3335+58C>T	NP_077288.2:n.3335+58C>T
XM_006719593.2:c.3335+58C>T	XP_006719656.1:n.3335+58C>T
XM_011538731.1:c.3254+58C>T	XP_011537033.1:n.3254+58C>T
XM_006719593.3:c.3335+58C>T	XP_006719656.1:n.3335+58C>T
XM_011538731.2:c.3254+58C>T	XP_011537033.1:n.3254+58C>T
XM_017019961.1:c.3119+58C>T	XP_016875450.1:n.3119+58C>T
XM_017019962.2:c.2108+58C>T	XP_016875451.1:n.2108+58C>T
NM_024312.5:c.3335+58C>T MANE Select	NP_077288.2:n.3335+58C>T