Canonical Allele Identifier: CA1555784414

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74721845C= , CM000667.2:g.74721845C= GRCh38
NC_000005.9:g.74017670C= , CM000667.1:g.74017670C= GRCh37
NC_000005.8:g.74053426C= NCBI36
NG_009770.1:g.41702C=
NG_011531.1:g.50373G=
NG_009770.2:g.86823C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.2212-62G= (GFM2) MANE Select ENSP00000296805.3:n.2212-62G=
ENST00000296805.7:c.2212-62G= (GFM2) ENSP00000296805.3:n.2212-62G=
ENST00000345239.6:c.2071-62G= (GFM2) ENSP00000296804.3:n.2071-62G=
ENST00000503312.5:c.608+409C= (HEXB)
ENST00000505859.1:c.255+409C= (HEXB)
ENST00000509430.5:c.2212-62G= (GFM2) ENSP00000427004.1:n.2212-62G=
ENST00000513867.1:n.380+409C= (HEXB)
ENST00000515125.5:n.615-62G= (GFM2)
NM_001281302.1:c.2308-62G= (GFM2) NP_001268231.1:n.2308-62G=
NM_032380.4:c.2212-62G= (GFM2) NP_115756.2:n.2212-62G=
NM_170691.2:c.2071-62G= (GFM2) NP_733792.1:n.2071-62G=
NR_104006.1:n.2531-62G= (GFM2)
XM_006714721.2:c.2077-62G= (GFM2) XP_006714784.1:n.2077-62G=
XM_011543690.1:c.2212-62G= (GFM2) XP_011541992.1:n.2212-62G=
XM_017009986.1:c.2212-62G= (GFM2) XP_016865475.1:n.2212-62G=
XR_002956185.1:n.3498-62G= (GFM2)
NM_032380.5:c.2212-62G= (GFM2) MANE Select NP_115756.2:n.2212-62G=
NM_001281302.2:c.2308-62G= (GFM2) NP_001268231.1:n.2308-62G=
NM_170691.3:c.2071-62G= (GFM2) NP_733792.1:n.2071-62G=
NR_104006.2:n.2277-62G= (GFM2)