Canonical Allele Identifier: CA1555784296

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74721635C= , CM000667.2:g.74721635C= GRCh38
NC_000005.9:g.74017460C= , CM000667.1:g.74017460C= GRCh37
NC_000005.8:g.74053216C= NCBI36
NG_009770.1:g.41492C=
NG_011531.1:g.50583G=
NG_009770.2:g.86613C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.*20G= (GFM2) MANE Select ENSP00000296805.3:n.*20G=
ENST00000296805.7:c.*20G= (GFM2) ENSP00000296805.3:n.*20G=
ENST00000345239.6:c.*20G= (GFM2) ENSP00000296804.3:n.*20G=
ENST00000503312.5:c.608+199C= (HEXB)
ENST00000505859.1:c.255+199C= (HEXB)
ENST00000509430.5:c.*20G= (GFM2) ENSP00000427004.1:n.*20G=
ENST00000513867.1:n.380+199C= (HEXB)
ENST00000515125.5:n.763G= (GFM2)
NM_001281302.1:c.*20G= (GFM2) NP_001268231.1:n.*20G=
NM_032380.4:c.*20G= (GFM2) NP_115756.2:n.*20G=
NM_170691.2:c.*20G= (GFM2) NP_733792.1:n.*20G=
NR_104006.1:n.2679G= (GFM2)
XM_006714721.2:c.*20G= (GFM2) XP_006714784.1:n.*20G=
XM_011543690.1:c.*20G= (GFM2) XP_011541992.1:n.*20G=
XM_017009986.1:c.*20G= (GFM2) XP_016865475.1:n.*20G=
XR_002956185.1:n.3646G= (GFM2)
NM_032380.5:c.*20G= (GFM2) MANE Select NP_115756.2:n.*20G=
NM_001281302.2:c.*20G= (GFM2) NP_001268231.1:n.*20G=
NM_170691.3:c.*20G= (GFM2) NP_733792.1:n.*20G=
NR_104006.2:n.2425G= (GFM2)