Canonical Allele Identifier: CA2466663682
Gene: EMD HGNC NCBI

Linked Data

dbSNP Id: rs2067872318
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379414G>A , CM000685.2:g.154379414G>A GRCh38
NC_000023.10:g.153607774G>A , CM000685.1:g.153607774G>A GRCh37
NC_000023.9:g.153260968G>A NCBI36
NG_008677.1:g.9979G>A , LRG_745:g.9979G>A
NG_011506.1:g.233C>T
NG_011506.2:g.225C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369842.9:c.-71G>A MANE Select ENSP00000358857.4:n.-71G>A
ENST00000369835.3:c.-71G>A ENSP00000358850.3:n.-71G>A
ENST00000369842.8:c.-71G>A ENSP00000358857.4:n.-71G>A
ENST00000428228.5:c.-71G>A ENSP00000401081.1:n.-71G>A
ENST00000485261.1:n.11G>A
ENST00000486738.5:n.74G>A
NM_000117.2:c.-71G>A , LRG_745t1:c.-71G>A NP_000108.1:n.-71G>A
XM_024452349.1:c.-279G>A XP_024308117.1:n.-279G>A
NM_000117.3:c.-71G>A MANE Select NP_000108.1:n.-71G>A
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