Canonical Allele Identifier: CA873317373

Gene: EMD

Linked Data

• dbSNP Id: rs1478805730
• gnomAD v4: X-154379432-G-A
• MyVariant Identifiers: chrX:g.154379432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379432G>A , CM000685.2:g.154379432G>A	GRCh38
NC_000023.10:g.153607792G>A , CM000685.1:g.153607792G>A	GRCh37
NC_000023.9:g.153260986G>A	NCBI36
NG_008677.1:g.9997G>A , LRG_745:g.9997G>A
NG_011506.1:g.215C>T
NG_011506.2:g.207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-53G>A	ENSP00000507245.1:n.-53G>A
ENST00000369842.9:c.-53G>A MANE Select	ENSP00000358857.4:n.-53G>A
ENST00000369835.3:c.-53G>A	ENSP00000358850.3:n.-53G>A
ENST00000369842.8:c.-53G>A	ENSP00000358857.4:n.-53G>A
ENST00000428228.5:c.-53G>A	ENSP00000401081.1:n.-53G>A
ENST00000485261.1:n.29G>A
ENST00000486738.5:n.92G>A
ENST00000494443.5:n.5G>A
NM_000117.2:c.-53G>A , LRG_745t1:c.-53G>A	NP_000108.1:n.-53G>A
XM_024452349.1:c.-261G>A	XP_024308117.1:n.-261G>A
NM_000117.3:c.-53G>A MANE Select	NP_000108.1:n.-53G>A