Canonical Allele Identifier: CA184862

Gene: EMD

Linked Data

• ClinVar Variation Id: 179659
• ClinVar RCV Id: RCV002408699
• dbSNP Id: rs727505029
• gnomAD v4: X-154379561-T-C
• MyVariant Identifiers: chrX:g.153607921T>C (hg19) ; chrX:g.154379561T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379561T>C , CM000685.2:g.154379561T>C	GRCh38
NC_000023.10:g.153607921T>C , CM000685.1:g.153607921T>C	GRCh37
NC_000023.9:g.153261115T>C	NCBI36
NG_008677.1:g.10126T>C , LRG_745:g.10126T>C
NG_011506.1:g.86A>G
NG_011506.2:g.78A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.77T>C	ENSP00000507245.1:p.Val26Ala
ENST00000682478.1:n.53T>C
ENST00000683576.1:n.53T>C
ENST00000683627.1:c.77T>C	ENSP00000507533.1:p.Val26Ala
ENST00000684082.1:c.77T>C	ENSP00000508266.1:p.Val26Ala
ENST00000684633.1:n.53T>C
ENST00000684678.1:c.77T>C	ENSP00000507059.1:p.Val26Ala
ENST00000369842.9:c.77T>C MANE Select	ENSP00000358857.4:p.Val26Ala
ENST00000369835.3:c.77T>C	ENSP00000358850.3:p.Val26Ala
ENST00000369842.8:c.77T>C	ENSP00000358857.4:p.Val26Ala
ENST00000428228.5:c.53+24T>C	ENSP00000401081.1:n.53+24T>C
ENST00000468294.5:n.37T>C
ENST00000485261.1:n.158T>C
ENST00000486738.5:n.221T>C
ENST00000494443.5:n.134T>C
NM_000117.2:c.77T>C , LRG_745t1:c.77T>C	NP_000108.1:p.Val26Ala
XM_024452349.1:c.-132T>C	XP_024308117.1:n.-132T>C
NM_000117.3:c.77T>C MANE Select	NP_000108.1:p.Val26Ala