Canonical Allele Identifier: CA2466663801
Gene: EMD HGNC NCBI

Linked Data

dbSNP Id: rs2067874460

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379649C>T , CM000685.2:g.154379649C>T GRCh38
NC_000023.10:g.153608009C>T , CM000685.1:g.153608009C>T GRCh37
NC_000023.9:g.153261203C>T NCBI36
NG_008677.1:g.10214C>T , LRG_745:g.10214C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.83-41C>T ENSP00000507245.1:n.83-41C>T
ENST00000682478.1:n.59-41C>T
ENST00000683576.1:n.59-41C>T
ENST00000683627.1:c.83-41C>T ENSP00000507533.1:n.83-41C>T
ENST00000684082.1:c.83-41C>T ENSP00000508266.1:n.83-41C>T
ENST00000684633.1:n.55-41C>T
ENST00000684678.1:c.79-41C>T ENSP00000507059.1:n.79-41C>T
ENST00000369842.9:c.83-41C>T MANE Select ENSP00000358857.4:n.83-41C>T
ENST00000369835.3:c.82+83C>T ENSP00000358850.3:n.82+83C>T
ENST00000369842.8:c.83-41C>T ENSP00000358857.4:n.83-41C>T
ENST00000428228.5:c.54-41C>T ENSP00000401081.1:n.54-41C>T
ENST00000468294.5:n.43-41C>T
ENST00000485261.1:n.163+83C>T
ENST00000486738.5:n.227-41C>T
ENST00000492448.1:n.25C>T
ENST00000494443.5:n.140-41C>T
NM_000117.2:c.83-41C>T , LRG_745t1:c.83-41C>T NP_000108.1:n.83-41C>T
XM_024452349.1:c.-126-41C>T XP_024308117.1:n.-126-41C>T
NM_000117.3:c.83-41C>T MANE Select NP_000108.1:n.83-41C>T