Canonical Allele Identifier: CA2695115023

Gene: EMD

Linked Data

• gnomAD v4: X-154379474-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379474C>T , CM000685.2:g.154379474C>T	GRCh38
NC_000023.10:g.153607834C>T , CM000685.1:g.153607834C>T	GRCh37
NC_000023.9:g.153261028C>T	NCBI36
NG_008677.1:g.10039C>T , LRG_745:g.10039C>T
NG_011506.1:g.173G>A
NG_011506.2:g.165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-11C>T	ENSP00000507245.1:n.-11C>T
ENST00000369842.9:c.-11C>T MANE Select	ENSP00000358857.4:n.-11C>T
ENST00000369835.3:c.-11C>T	ENSP00000358850.3:n.-11C>T
ENST00000369842.8:c.-11C>T	ENSP00000358857.4:n.-11C>T
ENST00000428228.5:c.-11C>T	ENSP00000401081.1:n.-11C>T
ENST00000485261.1:n.71C>T
ENST00000486738.5:n.134C>T
ENST00000494443.5:n.47C>T
NM_000117.2:c.-11C>T , LRG_745t1:c.-11C>T	NP_000108.1:n.-11C>T
XM_024452349.1:c.-219C>T	XP_024308117.1:n.-219C>T
NM_000117.3:c.-11C>T MANE Select	NP_000108.1:n.-11C>T