Canonical Allele Identifier: CA645171881
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 2148894
ClinVar RCV Id: RCV003081265
dbSNP Id: rs1557182538

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380740C>T , CM000685.2:g.154380740C>T GRCh38
NC_000023.10:g.153609100C>T , CM000685.1:g.153609100C>T GRCh37
NC_000023.9:g.153262294C>T NCBI36
NG_008677.1:g.11305C>T , LRG_745:g.11305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.400-13C>T ENSP00000507245.1:n.400-13C>T
ENST00000682478.1:n.590-13C>T
ENST00000683576.1:n.590-13C>T
ENST00000683627.1:c.400-13C>T ENSP00000507533.1:n.400-13C>T
ENST00000684082.1:c.357-13C>T ENSP00000508266.1:n.357-13C>T
ENST00000684633.1:n.372-13C>T
ENST00000684678.1:c.396-13C>T ENSP00000507059.1:n.396-13C>T
ENST00000369842.9:c.400-13C>T MANE Select ENSP00000358857.4:n.400-13C>T
ENST00000369835.3:c.295-13C>T ENSP00000358850.3:n.295-13C>T
ENST00000369842.8:c.400-13C>T ENSP00000358857.4:n.400-13C>T
ENST00000428228.5:c.*305-13C>T ENSP00000401081.1:n.*305-13C>T
ENST00000468294.5:n.360-13C>T
ENST00000471965.1:n.176C>T
ENST00000485261.1:n.590-13C>T
ENST00000486738.5:n.758-13C>T
ENST00000492448.1:n.383-13C>T
NM_000117.2:c.400-13C>T , LRG_745t1:c.400-13C>T NP_000108.1:n.400-13C>T
XM_024452349.1:c.406-13C>T XP_024308117.1:n.406-13C>T
NM_000117.3:c.400-13C>T MANE Select NP_000108.1:n.400-13C>T