Canonical Allele Identifier: CA386298747

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764704G>T , CM000674.2:g.101764704G>T	GRCh38
NC_000012.11:g.102158482G>T , CM000674.1:g.102158482G>T	GRCh37
NC_000012.10:g.100682613G>T	NCBI36
NG_021243.1:g.71164C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2213C>A MANE Select	NP_077288.2:p.Ser738Ter
ENST00000299314.12:c.2213C>A MANE Select	ENSP00000299314.7:p.Ser738Ter
NM_024312.4:c.2213C>A	NP_077288.2:p.Ser738Ter
ENST00000299314.11:c.2213C>A	ENSP00000299314.7:p.Ser738Ter
XM_006719593.2:c.2213C>A	XP_006719656.1:p.Ser738Ter
XM_006719593.3:c.2213C>A	XP_006719656.1:p.Ser738Ter
XM_011538731.1:c.2132C>A	XP_011537033.1:p.Ser711Ter
XM_011538731.2:c.2132C>A	XP_011537033.1:p.Ser711Ter
XM_017019961.1:c.1997C>A	XP_016875450.1:p.Ser666Ter
XM_017019962.2:c.986C>A	XP_016875451.1:p.Ser329Ter