Canonical Allele Identifier: CA415257458
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379739G>C , CM000685.2:g.154379739G>C GRCh38
NC_000023.10:g.153608099G>C , CM000685.1:g.153608099G>C GRCh37
NC_000023.9:g.153261293G>C NCBI36
NG_008677.1:g.10304G>C , LRG_745:g.10304G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.132G>C ENSP00000507245.1:p.Gln44His
ENST00000682478.1:n.108G>C
ENST00000683576.1:n.108G>C
ENST00000683627.1:c.132G>C ENSP00000507533.1:p.Gln44His
ENST00000684082.1:c.132G>C ENSP00000508266.1:p.Gln44His
ENST00000684633.1:n.104G>C
ENST00000684678.1:c.128G>C ENSP00000507059.1:p.Arg43Thr
ENST00000369842.9:c.132G>C MANE Select ENSP00000358857.4:p.Gln44His
ENST00000369835.3:c.82+173G>C ENSP00000358850.3:n.82+173G>C
ENST00000369842.8:c.132G>C ENSP00000358857.4:p.Gln44His
ENST00000428228.5:c.*37G>C ENSP00000401081.1:n.*37G>C
ENST00000468294.5:n.92G>C
ENST00000485261.1:n.163+173G>C
ENST00000486738.5:n.276G>C
ENST00000492448.1:n.115G>C
ENST00000494443.5:n.189G>C
NM_000117.2:c.132G>C , LRG_745t1:c.132G>C NP_000108.1:p.Gln44His
XM_024452349.1:c.-77G>C XP_024308117.1:n.-77G>C
NM_000117.3:c.132G>C MANE Select NP_000108.1:p.Gln44His