Canonical Allele Identifier: CA2058950615
Gene: GNPTAB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753556C= , CM000674.2:g.101753556C= GRCh38
NC_000012.11:g.102147334C= , CM000674.1:g.102147334C= GRCh37
NC_000012.10:g.100671465C= NCBI36
NG_021243.1:g.82312G=

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3435-17G= MANE Select ENSP00000299314.7:n.3435-17G=
ENST00000299314.11:c.3435-17G= ENSP00000299314.7:n.3435-17G=
ENST00000549738.5:c.333-17G= ENSP00000450161.1:n.333-17G=
NM_024312.4:c.3435-17G= NP_077288.2:n.3435-17G=
XM_011538731.1:c.3354-17G= XP_011537033.1:n.3354-17G=
XM_011538731.2:c.3354-17G= XP_011537033.1:n.3354-17G=
XM_017019961.1:c.3219-17G= XP_016875450.1:n.3219-17G=
XM_017019962.2:c.2208-17G= XP_016875451.1:n.2208-17G=
NM_024312.5:c.3435-17G= MANE Select NP_077288.2:n.3435-17G=
Search 100 bp 5'
Search 100 bp 3'