Canonical Allele Identifier: CA16609155

Gene: EMD

Linked Data

• ClinVar Variation Id: 381494
• ClinVar RCV Id: RCV000437417 ; RCV001700370 ; RCV003522967 ; RCV004022343
• dbSNP Id: rs1057521050
• gnomAD v2: X-153608075-G-A
• gnomAD v3: X-154379715-G-A
• gnomAD v4: X-154379715-G-A
• MyVariant Identifiers: chrX:g.153608075G>A (hg19) ; chrX:g.154379715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379715G>A , CM000685.2:g.154379715G>A	GRCh38
NC_000023.10:g.153608075G>A , CM000685.1:g.153608075G>A	GRCh37
NC_000023.9:g.153261269G>A	NCBI36
NG_008677.1:g.10280G>A , LRG_745:g.10280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.108G>A	ENSP00000507245.1:p.Lys36=
ENST00000682478.1:n.84G>A
ENST00000683576.1:n.84G>A
ENST00000683627.1:c.108G>A	ENSP00000507533.1:p.Lys36=
ENST00000684082.1:c.108G>A	ENSP00000508266.1:p.Lys36=
ENST00000684633.1:n.80G>A
ENST00000684678.1:c.104G>A	ENSP00000507059.1:p.Arg35Lys
ENST00000369842.9:c.108G>A MANE Select	ENSP00000358857.4:p.Lys36=
ENST00000369835.3:c.82+149G>A	ENSP00000358850.3:n.82+149G>A
ENST00000369842.8:c.108G>A	ENSP00000358857.4:p.Lys36=
ENST00000428228.5:c.*13G>A	ENSP00000401081.1:n.*13G>A
ENST00000468294.5:n.68G>A
ENST00000485261.1:n.163+149G>A
ENST00000486738.5:n.252G>A
ENST00000492448.1:n.91G>A
ENST00000494443.5:n.165G>A
NM_000117.2:c.108G>A , LRG_745t1:c.108G>A	NP_000108.1:p.Lys36=
XM_024452349.1:c.-101G>A	XP_024308117.1:n.-101G>A
NM_000117.3:c.108G>A MANE Select	NP_000108.1:p.Lys36=