Canonical Allele Identifier: CA2695115015

Gene: EMD

Linked Data

• gnomAD v4: X-154379465-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379465C>T , CM000685.2:g.154379465C>T	GRCh38
NC_000023.10:g.153607825C>T , CM000685.1:g.153607825C>T	GRCh37
NC_000023.9:g.153261019C>T	NCBI36
NG_008677.1:g.10030C>T , LRG_745:g.10030C>T
NG_011506.1:g.182G>A
NG_011506.2:g.174G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.-20C>T	ENSP00000507245.1:n.-20C>T
ENST00000369842.9:c.-20C>T MANE Select	ENSP00000358857.4:n.-20C>T
ENST00000369835.3:c.-20C>T	ENSP00000358850.3:n.-20C>T
ENST00000369842.8:c.-20C>T	ENSP00000358857.4:n.-20C>T
ENST00000428228.5:c.-20C>T	ENSP00000401081.1:n.-20C>T
ENST00000485261.1:n.62C>T
ENST00000486738.5:n.125C>T
ENST00000494443.5:n.38C>T
NM_000117.2:c.-20C>T , LRG_745t1:c.-20C>T	NP_000108.1:n.-20C>T
XM_024452349.1:c.-228C>T	XP_024308117.1:n.-228C>T
NM_000117.3:c.-20C>T MANE Select	NP_000108.1:n.-20C>T