Canonical Allele Identifier: CA386301289

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766211C>A , CM000674.2:g.101766211C>A	GRCh38
NC_000012.11:g.102159989C>A , CM000674.1:g.102159989C>A	GRCh37
NC_000012.10:g.100684120C>A	NCBI36
NG_021243.1:g.69657G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1492G>T MANE Select	NP_077288.2:p.Gly498Ter
ENST00000299314.12:c.1492G>T MANE Select	ENSP00000299314.7:p.Gly498Ter
NM_024312.4:c.1492G>T	NP_077288.2:p.Gly498Ter
ENST00000299314.11:c.1492G>T	ENSP00000299314.7:p.Gly498Ter
ENST00000552009.1:n.151G>T
XM_006719593.2:c.1492G>T	XP_006719656.1:p.Gly498Ter
XM_006719593.3:c.1492G>T	XP_006719656.1:p.Gly498Ter
XM_011538731.1:c.1411G>T	XP_011537033.1:p.Gly471Ter
XM_011538731.2:c.1411G>T	XP_011537033.1:p.Gly471Ter
XM_017019961.1:c.1276G>T	XP_016875450.1:p.Gly426Ter
XM_017019962.2:c.265G>T	XP_016875451.1:p.Gly89Ter