Canonical Allele Identifier: CA415257470
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379744G>T , CM000685.2:g.154379744G>T GRCh38
NC_000023.10:g.153608104G>T , CM000685.1:g.153608104G>T GRCh37
NC_000023.9:g.153261298G>T NCBI36
NG_008677.1:g.10309G>T , LRG_745:g.10309G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.137G>T ENSP00000507245.1:p.Arg46Leu
ENST00000682478.1:n.113G>T
ENST00000683576.1:n.113G>T
ENST00000683627.1:c.137G>T ENSP00000507533.1:p.Arg46Leu
ENST00000684082.1:c.137G>T ENSP00000508266.1:p.Arg46Leu
ENST00000684633.1:n.109G>T
ENST00000684678.1:c.133G>T ENSP00000507059.1:p.Gly45Cys
ENST00000369842.9:c.137G>T MANE Select ENSP00000358857.4:p.Arg46Leu
ENST00000369835.3:c.82+178G>T ENSP00000358850.3:n.82+178G>T
ENST00000369842.8:c.137G>T ENSP00000358857.4:p.Arg46Leu
ENST00000428228.5:c.*42G>T ENSP00000401081.1:n.*42G>T
ENST00000468294.5:n.97G>T
ENST00000485261.1:n.163+178G>T
ENST00000486738.5:n.281G>T
ENST00000492448.1:n.120G>T
ENST00000494443.5:n.194G>T
NM_000117.2:c.137G>T , LRG_745t1:c.137G>T NP_000108.1:p.Arg46Leu
XM_024452349.1:c.-72G>T XP_024308117.1:n.-72G>T
NM_000117.3:c.137G>T MANE Select NP_000108.1:p.Arg46Leu