Canonical Allele Identifier: CA6746516

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765055T>C , CM000674.2:g.101765055T>C	GRCh38
NC_000012.11:g.102158833T>C , CM000674.1:g.102158833T>C	GRCh37
NC_000012.10:g.100682964T>C	NCBI36
NG_021243.1:g.70813A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1862A>G MANE Select	NP_077288.2:p.Asn621Ser
ENST00000299314.12:c.1862A>G MANE Select	ENSP00000299314.7:p.Asn621Ser
NM_024312.4:c.1862A>G	NP_077288.2:p.Asn621Ser
ENST00000299314.11:c.1862A>G	ENSP00000299314.7:p.Asn621Ser
XM_006719593.2:c.1862A>G	XP_006719656.1:p.Asn621Ser
XM_006719593.3:c.1862A>G	XP_006719656.1:p.Asn621Ser
XM_011538731.1:c.1781A>G	XP_011537033.1:p.Asn594Ser
XM_011538731.2:c.1781A>G	XP_011537033.1:p.Asn594Ser
XM_017019961.1:c.1646A>G	XP_016875450.1:p.Asn549Ser
XM_017019962.2:c.635A>G	XP_016875451.1:p.Asn212Ser