Canonical Allele Identifier: CA343402

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753516T>C , CM000674.2:g.101753516T>C	GRCh38
NC_000012.11:g.102147294T>C , CM000674.1:g.102147294T>C	GRCh37
NC_000012.10:g.100671425T>C	NCBI36
NG_021243.1:g.82352A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3458A>G MANE Select	NP_077288.2:p.Asn1153Ser
ENST00000299314.12:c.3458A>G MANE Select	ENSP00000299314.7:p.Asn1153Ser
NM_024312.4:c.3458A>G	NP_077288.2:p.Asn1153Ser
ENST00000299314.11:c.3458A>G	ENSP00000299314.7:p.Asn1153Ser
ENST00000549738.5:c.356A>G	ENSP00000450161.1:n.356A>G
XM_011538731.1:c.3377A>G	XP_011537033.1:p.Asn1126Ser
XM_011538731.2:c.3377A>G	XP_011537033.1:p.Asn1126Ser
XM_017019961.1:c.3242A>G	XP_016875450.1:p.Asn1081Ser
XM_017019962.2:c.2231A>G	XP_016875451.1:p.Asn744Ser