Canonical Allele Identifier: CA337288755

Gene: EMD

Linked Data

• dbSNP Id: rs368434349
• gnomAD v4: X-154379476-G-A
• MyVariant Identifiers: chrX:g.153607836G>A (hg19) ; chrX:g.154379476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379476G>A , CM000685.2:g.154379476G>A	GRCh38
NC_000023.10:g.153607836G>A , CM000685.1:g.153607836G>A	GRCh37
NC_000023.9:g.153261030G>A	NCBI36
NG_008677.1:g.10041G>A , LRG_745:g.10041G>A
NG_011506.1:g.171C>T
NG_011506.2:g.163C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.-9G>A	ENSP00000507245.1:n.-9G>A
ENST00000369842.9:c.-9G>A MANE Select	ENSP00000358857.4:n.-9G>A
ENST00000369835.3:c.-9G>A	ENSP00000358850.3:n.-9G>A
ENST00000369842.8:c.-9G>A	ENSP00000358857.4:n.-9G>A
ENST00000428228.5:c.-9G>A	ENSP00000401081.1:n.-9G>A
ENST00000485261.1:n.73G>A
ENST00000486738.5:n.136G>A
ENST00000494443.5:n.49G>A
NM_000117.2:c.-9G>A , LRG_745t1:c.-9G>A	NP_000108.1:n.-9G>A
XM_024452349.1:c.-217G>A	XP_024308117.1:n.-217G>A
NM_000117.3:c.-9G>A MANE Select	NP_000108.1:n.-9G>A