Canonical Allele Identifier: CA386298541

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764613T>A , CM000674.2:g.101764613T>A	GRCh38
NC_000012.11:g.102158391T>A , CM000674.1:g.102158391T>A	GRCh37
NC_000012.10:g.100682522T>A	NCBI36
NG_021243.1:g.71255A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2304A>T MANE Select	NP_077288.2:p.Lys768Asn
ENST00000299314.12:c.2304A>T MANE Select	ENSP00000299314.7:p.Lys768Asn
NM_024312.4:c.2304A>T	NP_077288.2:p.Lys768Asn
ENST00000299314.11:c.2304A>T	ENSP00000299314.7:p.Lys768Asn
XM_006719593.2:c.2304A>T	XP_006719656.1:p.Lys768Asn
XM_006719593.3:c.2304A>T	XP_006719656.1:p.Lys768Asn
XM_011538731.1:c.2223A>T	XP_011537033.1:p.Lys741Asn
XM_011538731.2:c.2223A>T	XP_011537033.1:p.Lys741Asn
XM_017019961.1:c.2088A>T	XP_016875450.1:p.Lys696Asn
XM_017019962.2:c.1077A>T	XP_016875451.1:p.Lys359Asn