Canonical Allele Identifier: CA335148
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 201772
dbSNP Id: rs794729010

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379795G>T , CM000685.2:g.154379795G>T GRCh38
NC_000023.10:g.153608155G>T , CM000685.1:g.153608155G>T GRCh37
NC_000023.9:g.153261349G>T NCBI36
NG_008677.1:g.10360G>T , LRG_745:g.10360G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.187+1G>T ENSP00000507245.1:n.187+1G>T
ENST00000682478.1:n.163+1G>T
ENST00000683576.1:n.163+1G>T
ENST00000683627.1:c.187+1G>T ENSP00000507533.1:n.187+1G>T
ENST00000684082.1:c.187+1G>T ENSP00000508266.1:n.187+1G>T
ENST00000684633.1:n.159+1G>T
ENST00000684678.1:c.183+1G>T ENSP00000507059.1:n.183+1G>T
ENST00000369842.9:c.187+1G>T MANE Select ENSP00000358857.4:n.187+1G>T
ENST00000369835.3:c.83-147G>T ENSP00000358850.3:n.83-147G>T
ENST00000369842.8:c.187+1G>T ENSP00000358857.4:n.187+1G>T
ENST00000428228.5:c.*92+1G>T ENSP00000401081.1:n.*92+1G>T
ENST00000468294.5:n.147+1G>T
ENST00000485261.1:n.164-147G>T
ENST00000486738.5:n.331+1G>T
ENST00000492448.1:n.170+1G>T
ENST00000494443.5:n.244+1G>T
NM_000117.2:c.187+1G>T , LRG_745t1:c.187+1G>T NP_000108.1:n.187+1G>T
XM_024452349.1:c.-22+1G>T XP_024308117.1:n.-22+1G>T
NM_000117.3:c.187+1G>T MANE Select NP_000108.1:n.187+1G>T