Canonical Allele Identifier: CA2695115029

Gene: EMD

Linked Data

• gnomAD v4: X-154379480-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379480C>A , CM000685.2:g.154379480C>A	GRCh38
NC_000023.10:g.153607840C>A , CM000685.1:g.153607840C>A	GRCh37
NC_000023.9:g.153261034C>A	NCBI36
NG_008677.1:g.10045C>A , LRG_745:g.10045C>A
NG_011506.1:g.167G>T
NG_011506.2:g.159G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-5C>A	ENSP00000507245.1:n.-5C>A
ENST00000369842.9:c.-5C>A MANE Select	ENSP00000358857.4:n.-5C>A
ENST00000369835.3:c.-5C>A	ENSP00000358850.3:n.-5C>A
ENST00000369842.8:c.-5C>A	ENSP00000358857.4:n.-5C>A
ENST00000428228.5:c.-5C>A	ENSP00000401081.1:n.-5C>A
ENST00000485261.1:n.77C>A
ENST00000486738.5:n.140C>A
ENST00000494443.5:n.53C>A
NM_000117.2:c.-5C>A , LRG_745t1:c.-5C>A	NP_000108.1:n.-5C>A
XM_024452349.1:c.-213C>A	XP_024308117.1:n.-213C>A
NM_000117.3:c.-5C>A MANE Select	NP_000108.1:n.-5C>A