Canonical Allele Identifier: CA246531
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 198043
dbSNP Id: rs376456050

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380886C>T , CM000685.2:g.154380886C>T GRCh38
NC_000023.10:g.153609246C>T , CM000685.1:g.153609246C>T GRCh37
NC_000023.9:g.153262440C>T NCBI36
NG_008677.1:g.11451C>T , LRG_745:g.11451C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.454C>T ENSP00000507245.1:p.Arg152Cys
ENST00000682478.1:n.644C>T
ENST00000683576.1:n.644C>T
ENST00000683627.1:c.454C>T ENSP00000507533.1:p.Arg152Cys
ENST00000684082.1:c.411C>T ENSP00000508266.1:n.411C>T
ENST00000684633.1:n.426C>T
ENST00000684678.1:c.450C>T ENSP00000507059.1:n.450C>T
ENST00000369842.9:c.454C>T MANE Select ENSP00000358857.4:p.Arg152Cys
ENST00000369835.3:c.349C>T ENSP00000358850.3:p.Arg117Cys
ENST00000369842.8:c.454C>T ENSP00000358857.4:p.Arg152Cys
ENST00000428228.5:c.*359C>T ENSP00000401081.1:n.*359C>T
ENST00000468294.5:n.493C>T
ENST00000471965.1:n.243C>T
ENST00000485261.1:n.723C>T
ENST00000486738.5:n.891C>T
ENST00000492448.1:n.437C>T
NM_000117.2:c.454C>T , LRG_745t1:c.454C>T NP_000108.1:p.Arg152Cys
XM_024452349.1:c.460C>T XP_024308117.1:p.Arg154Cys
NM_000117.3:c.454C>T MANE Select NP_000108.1:p.Arg152Cys