Canonical Allele Identifier: CA6746526

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765117G>A , CM000674.2:g.101765117G>A	GRCh38
NC_000012.11:g.102158895G>A , CM000674.1:g.102158895G>A	GRCh37
NC_000012.10:g.100683026G>A	NCBI36
NG_021243.1:g.70751C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1800C>T MANE Select	NP_077288.2:p.Leu600=
ENST00000299314.12:c.1800C>T MANE Select	ENSP00000299314.7:p.Leu600=
NM_024312.4:c.1800C>T	NP_077288.2:p.Leu600=
ENST00000299314.11:c.1800C>T	ENSP00000299314.7:p.Leu600=
XM_006719593.2:c.1800C>T	XP_006719656.1:p.Leu600=
XM_006719593.3:c.1800C>T	XP_006719656.1:p.Leu600=
XM_011538731.1:c.1719C>T	XP_011537033.1:p.Leu573=
XM_011538731.2:c.1719C>T	XP_011537033.1:p.Leu573=
XM_017019961.1:c.1584C>T	XP_016875450.1:p.Leu528=
XM_017019962.2:c.573C>T	XP_016875451.1:p.Leu191=