Canonical Allele Identifier: CA415256993

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153607889G>C (hg19) ; chrX:g.154379529G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379529G>C , CM000685.2:g.154379529G>C	GRCh38
NC_000023.10:g.153607889G>C , CM000685.1:g.153607889G>C	GRCh37
NC_000023.9:g.153261083G>C	NCBI36
NG_008677.1:g.10094G>C , LRG_745:g.10094G>C
NG_011506.1:g.118C>G
NG_011506.2:g.110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.45G>C	ENSP00000507245.1:p.Leu15Phe
ENST00000682478.1:n.21G>C
ENST00000683576.1:n.21G>C
ENST00000683627.1:c.45G>C	ENSP00000507533.1:p.Leu15Phe
ENST00000684082.1:c.45G>C	ENSP00000508266.1:p.Leu15Phe
ENST00000684633.1:n.21G>C
ENST00000684678.1:c.45G>C	ENSP00000507059.1:p.Leu15Phe
ENST00000369842.9:c.45G>C MANE Select	ENSP00000358857.4:p.Leu15Phe
ENST00000369835.3:c.45G>C	ENSP00000358850.3:p.Leu15Phe
ENST00000369842.8:c.45G>C	ENSP00000358857.4:p.Leu15Phe
ENST00000428228.5:c.45G>C	ENSP00000401081.1:p.Leu15Phe
ENST00000468294.5:n.5G>C
ENST00000485261.1:n.126G>C
ENST00000486738.5:n.189G>C
ENST00000494443.5:n.102G>C
NM_000117.2:c.45G>C , LRG_745t1:c.45G>C	NP_000108.1:p.Leu15Phe
XM_024452349.1:c.-164G>C	XP_024308117.1:n.-164G>C
NM_000117.3:c.45G>C MANE Select	NP_000108.1:p.Leu15Phe