Canonical Allele Identifier: CA2127793

Gene: SPEG ASIC4-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219492161C>A , CM000664.2:g.219492161C>A	GRCh38
NC_000002.11:g.220356883C>A , CM000664.1:g.220356883C>A	GRCh37
NC_000002.10:g.220065127C>A	NCBI36
NG_051022.1:g.62947C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005876.5:c.9512C>A (SPEG) MANE Select	NP_005867.3:p.Ala3171Asp
ENST00000312358.12:c.9512C>A (SPEG) MANE Select	ENSP00000311684.7:p.Ala3171Asp
NM_005876.4:c.9512C>A (SPEG)	NP_005867.3:p.Ala3171Asp
ENST00000312358.11:c.9512C>A (SPEG)	ENSP00000311684.7:p.Ala3171Asp
ENST00000412982.5:c.54C>A (SPEG)
ENST00000485813.5:n.8755C>A (SPEG)
XM_005246237.2:c.9230C>A (SPEG)	XP_005246294.1:p.Ala3077Asp
XM_005246239.2:c.7136C>A (SPEG)	XP_005246296.1:p.Ala2379Asp
XM_005246240.2:c.6965C>A (SPEG)	XP_005246297.1:p.Ala2322Asp
XM_005246241.1:c.6965C>A (SPEG)	XP_005246298.1:p.Ala2322Asp
XM_005246242.3:c.7151C>A (SPEG)	XP_005246299.1:p.Ala2384Asp
XM_005246242.4:c.7151C>A (SPEG)	XP_005246299.1:p.Ala2384Asp
XM_006712189.2:c.9200C>A (SPEG)	XP_006712252.1:p.Ala3067Asp
XM_006712189.3:c.9200C>A (SPEG)	XP_006712252.1:p.Ala3067Asp
XM_006712193.2:c.6965C>A (SPEG)	XP_006712256.1:p.Ala2322Asp
XM_006712193.3:c.6965C>A (SPEG)	XP_006712256.1:p.Ala2322Asp
XM_011510479.1:c.9542C>A (SPEG)	XP_011508781.1:p.Ala3181Asp
XM_011510479.2:c.9542C>A (SPEG)	XP_011508781.1:p.Ala3181Asp
XM_011510480.1:c.9374C>A (SPEG)	XP_011508782.1:p.Ala3125Asp
XM_011510481.1:c.9365C>A (SPEG)	XP_011508783.1:p.Ala3122Asp
XM_011510482.1:c.9359C>A (SPEG)	XP_011508784.1:p.Ala3120Asp
XM_011510483.1:c.9281C>A (SPEG)	XP_011508785.1:p.Ala3094Asp
XM_011510483.2:c.9260C>A (SPEG)	XP_011508785.2:p.Ala3087Asp
XM_011510484.1:c.9197C>A (SPEG)	XP_011508786.1:p.Ala3066Asp
XM_017003157.1:c.9260C>A (SPEG)	XP_016858646.1:p.Ala3087Asp
XM_017003158.2:c.6965C>A (SPEG)	XP_016858647.1:p.Ala2322Asp
XM_017003160.1:c.4520C>A (SPEG)	XP_016858649.1:p.Ala1507Asp
XR_923921.1:n.353-9752G>T (ASIC4-AS1)
XR_923921.2:n.392-9752G>T (ASIC4-AS1)