Canonical Allele Identifier: CA386304315

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780157T>A , CM000674.2:g.101780157T>A	GRCh38
NC_000012.11:g.102173935T>A , CM000674.1:g.102173935T>A	GRCh37
NC_000012.10:g.100698066T>A	NCBI36
NG_021243.1:g.55711A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.766A>T MANE Select	NP_077288.2:p.Lys256Ter
ENST00000299314.12:c.766A>T MANE Select	ENSP00000299314.7:p.Lys256Ter
NM_024312.4:c.766A>T	NP_077288.2:p.Lys256Ter
ENST00000299314.11:c.766A>T	ENSP00000299314.7:p.Lys256Ter
ENST00000549940.5:c.766A>T	ENSP00000449150.1:p.Lys256Ter
ENST00000552681.1:c.400A>T	ENSP00000449217.1:p.Lys134Ter
XM_006719593.2:c.766A>T	XP_006719656.1:p.Lys256Ter
XM_006719593.3:c.766A>T	XP_006719656.1:p.Lys256Ter
XM_011538731.1:c.685A>T	XP_011537033.1:p.Lys229Ter
XM_011538731.2:c.685A>T	XP_011537033.1:p.Lys229Ter
XM_017019961.1:c.550A>T	XP_016875450.1:p.Lys184Ter
XM_017019962.2:c.-585A>T	XP_016875451.1:n.-585A>T