Canonical Allele Identifier: CA873317365

Gene: EMD

Linked Data

• dbSNP Id: rs1418091862
• gnomAD v3: X-154379421-G-C
• gnomAD v4: X-154379421-G-C
• MyVariant Identifiers: chrX:g.154379421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379421G>C , CM000685.2:g.154379421G>C	GRCh38
NC_000023.10:g.153607781G>C , CM000685.1:g.153607781G>C	GRCh37
NC_000023.9:g.153260975G>C	NCBI36
NG_008677.1:g.9986G>C , LRG_745:g.9986G>C
NG_011506.1:g.226C>G
NG_011506.2:g.218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-64G>C	ENSP00000507245.1:n.-64G>C
ENST00000369842.9:c.-64G>C MANE Select	ENSP00000358857.4:n.-64G>C
ENST00000369835.3:c.-64G>C	ENSP00000358850.3:n.-64G>C
ENST00000369842.8:c.-64G>C	ENSP00000358857.4:n.-64G>C
ENST00000428228.5:c.-64G>C	ENSP00000401081.1:n.-64G>C
ENST00000485261.1:n.18G>C
ENST00000486738.5:n.81G>C
NM_000117.2:c.-64G>C , LRG_745t1:c.-64G>C	NP_000108.1:n.-64G>C
XM_024452349.1:c.-272G>C	XP_024308117.1:n.-272G>C
NM_000117.3:c.-64G>C MANE Select	NP_000108.1:n.-64G>C