Canonical Allele Identifier: CA415257266

Gene: EMD

Linked Data

• ClinVar Variation Id: 999637
• ClinVar RCV Id: RCV001295658
• dbSNP Id: rs2067874763
• MyVariant Identifiers: chrX:g.153608052T>C (hg19) ; chrX:g.154379692T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379692T>C , CM000685.2:g.154379692T>C	GRCh38
NC_000023.10:g.153608052T>C , CM000685.1:g.153608052T>C	GRCh37
NC_000023.9:g.153261246T>C	NCBI36
NG_008677.1:g.10257T>C , LRG_745:g.10257T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.85T>C	ENSP00000507245.1:p.Ser29Pro
ENST00000682478.1:n.61T>C
ENST00000683576.1:n.61T>C
ENST00000683627.1:c.85T>C	ENSP00000507533.1:p.Ser29Pro
ENST00000684082.1:c.85T>C	ENSP00000508266.1:p.Ser29Pro
ENST00000684633.1:n.57T>C
ENST00000684678.1:c.81T>C	ENSP00000507059.1:p.Asp27=
ENST00000369842.9:c.85T>C MANE Select	ENSP00000358857.4:p.Ser29Pro
ENST00000369835.3:c.82+126T>C	ENSP00000358850.3:n.82+126T>C
ENST00000369842.8:c.85T>C	ENSP00000358857.4:p.Ser29Pro
ENST00000428228.5:c.56T>C	ENSP00000401081.1:p.Ile19Thr
ENST00000468294.5:n.45T>C
ENST00000485261.1:n.163+126T>C
ENST00000486738.5:n.229T>C
ENST00000492448.1:n.68T>C
ENST00000494443.5:n.142T>C
NM_000117.2:c.85T>C , LRG_745t1:c.85T>C	NP_000108.1:p.Ser29Pro
XM_024452349.1:c.-124T>C	XP_024308117.1:n.-124T>C
NM_000117.3:c.85T>C MANE Select	NP_000108.1:p.Ser29Pro