Canonical Allele Identifier: CA645171836

Gene: EMD

Linked Data

• dbSNP Id: rs1557182175
• gnomAD v2: X-153607818-A-G
• gnomAD v4: X-154379458-A-G
• MyVariant Identifiers: chrX:g.153607818A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379458A>G , CM000685.2:g.154379458A>G	GRCh38
NC_000023.10:g.153607818A>G , CM000685.1:g.153607818A>G	GRCh37
NC_000023.9:g.153261012A>G	NCBI36
NG_008677.1:g.10023A>G , LRG_745:g.10023A>G
NG_011506.1:g.189T>C
NG_011506.2:g.181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-27A>G	ENSP00000507245.1:n.-27A>G
ENST00000369842.9:c.-27A>G MANE Select	ENSP00000358857.4:n.-27A>G
ENST00000369835.3:c.-27A>G	ENSP00000358850.3:n.-27A>G
ENST00000369842.8:c.-27A>G	ENSP00000358857.4:n.-27A>G
ENST00000428228.5:c.-27A>G	ENSP00000401081.1:n.-27A>G
ENST00000485261.1:n.55A>G
ENST00000486738.5:n.118A>G
ENST00000494443.5:n.31A>G
NM_000117.2:c.-27A>G , LRG_745t1:c.-27A>G	NP_000108.1:n.-27A>G
XM_024452349.1:c.-235A>G	XP_024308117.1:n.-235A>G
NM_000117.3:c.-27A>G MANE Select	NP_000108.1:n.-27A>G