Canonical Allele Identifier: CA415256954

Gene: EMD

Linked Data

• ClinVar Variation Id: 1361208
• ClinVar RCV Id: RCV001907410
• dbSNP Id: rs2148127968
• MyVariant Identifiers: chrX:g.153607881A>C (hg19) ; chrX:g.154379521A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379521A>C , CM000685.2:g.154379521A>C	GRCh38
NC_000023.10:g.153607881A>C , CM000685.1:g.153607881A>C	GRCh37
NC_000023.9:g.153261075A>C	NCBI36
NG_008677.1:g.10086A>C , LRG_745:g.10086A>C
NG_011506.1:g.126T>G
NG_011506.2:g.118T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.37A>C	ENSP00000507245.1:p.Thr13Pro
ENST00000682478.1:n.13A>C
ENST00000683576.1:n.13A>C
ENST00000683627.1:c.37A>C	ENSP00000507533.1:p.Thr13Pro
ENST00000684082.1:c.37A>C	ENSP00000508266.1:p.Thr13Pro
ENST00000684633.1:n.13A>C
ENST00000684678.1:c.37A>C	ENSP00000507059.1:p.Thr13Pro
ENST00000369842.9:c.37A>C MANE Select	ENSP00000358857.4:p.Thr13Pro
ENST00000369835.3:c.37A>C	ENSP00000358850.3:p.Thr13Pro
ENST00000369842.8:c.37A>C	ENSP00000358857.4:p.Thr13Pro
ENST00000428228.5:c.37A>C	ENSP00000401081.1:p.Thr13Pro
ENST00000485261.1:n.118A>C
ENST00000486738.5:n.181A>C
ENST00000494443.5:n.94A>C
NM_000117.2:c.37A>C , LRG_745t1:c.37A>C	NP_000108.1:p.Thr13Pro
XM_024452349.1:c.-172A>C	XP_024308117.1:n.-172A>C
NM_000117.3:c.37A>C MANE Select	NP_000108.1:p.Thr13Pro