Canonical Allele Identifier: CA386301012

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766090C>T , CM000674.2:g.101766090C>T	GRCh38
NC_000012.11:g.102159868C>T , CM000674.1:g.102159868C>T	GRCh37
NC_000012.10:g.100683999C>T	NCBI36
NG_021243.1:g.69778G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1612+1G>A MANE Select	NP_077288.2:n.1612+1G>A
ENST00000299314.12:c.1612+1G>A MANE Select	ENSP00000299314.7:n.1612+1G>A
NM_024312.4:c.1612+1G>A	NP_077288.2:n.1612+1G>A
ENST00000299314.11:c.1612+1G>A	ENSP00000299314.7:n.1612+1G>A
ENST00000552009.1:n.272G>A
XM_006719593.2:c.1612+1G>A	XP_006719656.1:n.1612+1G>A
XM_006719593.3:c.1612+1G>A	XP_006719656.1:n.1612+1G>A
XM_011538731.1:c.1531+1G>A	XP_011537033.1:n.1531+1G>A
XM_011538731.2:c.1531+1G>A	XP_011537033.1:n.1531+1G>A
XM_017019961.1:c.1396+1G>A	XP_016875450.1:n.1396+1G>A
XM_017019962.2:c.385+1G>A	XP_016875451.1:n.385+1G>A