Canonical Allele Identifier: CA2466663705

Gene: EMD

Linked Data

• dbSNP Id: rs2067872691
• gnomAD v4: X-154379456-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379456C>T , CM000685.2:g.154379456C>T	GRCh38
NC_000023.10:g.153607816C>T , CM000685.1:g.153607816C>T	GRCh37
NC_000023.9:g.153261010C>T	NCBI36
NG_008677.1:g.10021C>T , LRG_745:g.10021C>T
NG_011506.1:g.191G>A
NG_011506.2:g.183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-29C>T	ENSP00000507245.1:n.-29C>T
ENST00000369842.9:c.-29C>T MANE Select	ENSP00000358857.4:n.-29C>T
ENST00000369835.3:c.-29C>T	ENSP00000358850.3:n.-29C>T
ENST00000369842.8:c.-29C>T	ENSP00000358857.4:n.-29C>T
ENST00000428228.5:c.-29C>T	ENSP00000401081.1:n.-29C>T
ENST00000485261.1:n.53C>T
ENST00000486738.5:n.116C>T
ENST00000494443.5:n.29C>T
NM_000117.2:c.-29C>T , LRG_745t1:c.-29C>T	NP_000108.1:n.-29C>T
XM_024452349.1:c.-237C>T	XP_024308117.1:n.-237C>T
NM_000117.3:c.-29C>T MANE Select	NP_000108.1:n.-29C>T