Canonical Allele Identifier: CA2326567775

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869232C= , CM000681.2:g.18869232C= GRCh38
NC_000019.9:g.18980041C= , CM000681.1:g.18980041C= GRCh37
NC_000019.8:g.18841041C= NCBI36
NG_012070.1:g.31913G=
NG_033056.1:g.31913G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*753G= (CERS1) MANE Select ENSP00000485308.1:n.*753G=
ENST00000247005.8:c.484G= (GDF1) MANE Select ENSP00000247005.5:p.Gly162=
ENST00000247005.7:c.484G= (GDF1) ENSP00000247005.5:p.Gly162=
ENST00000623882.3:c.*753G= (CERS1) ENSP00000485308.1:n.*753G=
ENST00000623927.1:c.484G= (CERS1) ENSP00000485582.1:p.Gly162=
NM_001492.5:c.484G= (GDF1) NP_001483.3:p.Gly162=
NM_021267.4:c.*753G= (CERS1) NP_067090.1:n.*753G=
NM_001492.6:c.484G= (GDF1) MANE Select NP_001483.3:p.Gly162=
NM_021267.5:c.*753G= (CERS1) MANE Select NP_067090.1:n.*753G=
NM_001387438.1:c.484G= (GDF1) NP_001374367.1:p.Gly162=
NM_001387440.1:c.*1345G= (CERS1) NP_001374369.1:n.*1345G=