Canonical Allele Identifier: CA415257649

Gene: EMD

Linked Data

• gnomAD v4: X-154379972-T-A
• MyVariant Identifiers: chrX:g.153608332T>A (hg19) ; chrX:g.154379972T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379972T>A , CM000685.2:g.154379972T>A	GRCh38
NC_000023.10:g.153608332T>A , CM000685.1:g.153608332T>A	GRCh37
NC_000023.9:g.153261526T>A	NCBI36
NG_008677.1:g.10537T>A , LRG_745:g.10537T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.218T>A	ENSP00000507245.1:p.Met73Lys
ENST00000682478.1:n.194T>A
ENST00000683576.1:n.194T>A
ENST00000683627.1:c.218T>A	ENSP00000507533.1:p.Met73Lys
ENST00000684082.1:c.218T>A	ENSP00000508266.1:p.Met73Lys
ENST00000684633.1:n.190T>A
ENST00000684678.1:c.214T>A	ENSP00000507059.1:n.214T>A
ENST00000369842.9:c.218T>A MANE Select	ENSP00000358857.4:p.Met73Lys
ENST00000369835.3:c.113T>A	ENSP00000358850.3:p.Met38Lys
ENST00000369842.8:c.218T>A	ENSP00000358857.4:p.Met73Lys
ENST00000428228.5:c.*123T>A	ENSP00000401081.1:n.*123T>A
ENST00000468294.5:n.178T>A
ENST00000485261.1:n.194T>A
ENST00000486738.5:n.362T>A
ENST00000492448.1:n.201T>A
ENST00000494443.5:n.275T>A
NM_000117.2:c.218T>A , LRG_745t1:c.218T>A	NP_000108.1:p.Met73Lys
XM_024452349.1:c.10T>A	XP_024308117.1:p.Cys4Ser
NM_000117.3:c.218T>A MANE Select	NP_000108.1:p.Met73Lys