Canonical Allele Identifier: CA1555784390

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74721797T= , CM000667.2:g.74721797T= GRCh38
NC_000005.9:g.74017622T= , CM000667.1:g.74017622T= GRCh37
NC_000005.8:g.74053378T= NCBI36
NG_009770.1:g.41654T=
NG_011531.1:g.50421A=
NG_009770.2:g.86775T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.2212-14A= (GFM2) MANE Select ENSP00000296805.3:n.2212-14A=
ENST00000296805.7:c.2212-14A= (GFM2) ENSP00000296805.3:n.2212-14A=
ENST00000345239.6:c.2071-14A= (GFM2) ENSP00000296804.3:n.2071-14A=
ENST00000503312.5:c.608+361T= (HEXB)
ENST00000505859.1:c.255+361T= (HEXB)
ENST00000509430.5:c.2212-14A= (GFM2) ENSP00000427004.1:n.2212-14A=
ENST00000513867.1:n.380+361T= (HEXB)
ENST00000515125.5:n.615-14A= (GFM2)
NM_001281302.1:c.2308-14A= (GFM2) NP_001268231.1:n.2308-14A=
NM_032380.4:c.2212-14A= (GFM2) NP_115756.2:n.2212-14A=
NM_170691.2:c.2071-14A= (GFM2) NP_733792.1:n.2071-14A=
NR_104006.1:n.2531-14A= (GFM2)
XM_006714721.2:c.2077-14A= (GFM2) XP_006714784.1:n.2077-14A=
XM_011543690.1:c.2212-14A= (GFM2) XP_011541992.1:n.2212-14A=
XM_017009986.1:c.2212-14A= (GFM2) XP_016865475.1:n.2212-14A=
XR_002956185.1:n.3498-14A= (GFM2)
NM_032380.5:c.2212-14A= (GFM2) MANE Select NP_115756.2:n.2212-14A=
NM_001281302.2:c.2308-14A= (GFM2) NP_001268231.1:n.2308-14A=
NM_170691.3:c.2071-14A= (GFM2) NP_733792.1:n.2071-14A=
NR_104006.2:n.2277-14A= (GFM2)