Canonical Allele Identifier: CA2058962331
Community Standard Title: NM_024312.5(GNPTAB):c.637-1G=
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101780287C= , CM000674.2:g.101780287C= GRCh38
NC_000012.11:g.102174065C= , CM000674.1:g.102174065C= GRCh37
NC_000012.10:g.100698196C= NCBI36
NG_021243.1:g.55581G=

Transcript Alleles

HGVS Amino-acid Change
NM_024312.5:c.637-1G= MANE Select NP_077288.2:n.637-1G=
ENST00000299314.12:c.637-1G= MANE Select ENSP00000299314.7:n.637-1G=
NM_024312.4:c.637-1G= NP_077288.2:n.637-1G=
ENST00000299314.11:c.637-1G= ENSP00000299314.7:n.637-1G=
ENST00000549940.5:c.637-1G= ENSP00000449150.1:n.637-1G=
ENST00000552681.1:c.271-1G= ENSP00000449217.1:n.271-1G=
XM_006719593.2:c.637-1G= XP_006719656.1:n.637-1G=
XM_006719593.3:c.637-1G= XP_006719656.1:n.637-1G=
XM_011538731.1:c.556-1G= XP_011537033.1:n.556-1G=
XM_011538731.2:c.556-1G= XP_011537033.1:n.556-1G=
XM_017019961.1:c.421-1G= XP_016875450.1:n.421-1G=
XM_017019962.2:c.-714-1G= XP_016875451.1:n.-714-1G=