Canonical Allele Identifier: CA415257456
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379738A>G , CM000685.2:g.154379738A>G GRCh38
NC_000023.10:g.153608098A>G , CM000685.1:g.153608098A>G GRCh37
NC_000023.9:g.153261292A>G NCBI36
NG_008677.1:g.10303A>G , LRG_745:g.10303A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.131A>G ENSP00000507245.1:p.Gln44Arg
ENST00000682478.1:n.107A>G
ENST00000683576.1:n.107A>G
ENST00000683627.1:c.131A>G ENSP00000507533.1:p.Gln44Arg
ENST00000684082.1:c.131A>G ENSP00000508266.1:p.Gln44Arg
ENST00000684633.1:n.103A>G
ENST00000684678.1:c.127A>G ENSP00000507059.1:p.Arg43Gly
ENST00000369842.9:c.131A>G MANE Select ENSP00000358857.4:p.Gln44Arg
ENST00000369835.3:c.82+172A>G ENSP00000358850.3:n.82+172A>G
ENST00000369842.8:c.131A>G ENSP00000358857.4:p.Gln44Arg
ENST00000428228.5:c.*36A>G ENSP00000401081.1:n.*36A>G
ENST00000468294.5:n.91A>G
ENST00000485261.1:n.163+172A>G
ENST00000486738.5:n.275A>G
ENST00000492448.1:n.114A>G
ENST00000494443.5:n.188A>G
NM_000117.2:c.131A>G , LRG_745t1:c.131A>G NP_000108.1:p.Gln44Arg
XM_024452349.1:c.-78A>G XP_024308117.1:n.-78A>G
NM_000117.3:c.131A>G MANE Select NP_000108.1:p.Gln44Arg