Canonical Allele Identifier: CA519277848

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608057T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379697T>C , CM000685.2:g.154379697T>C	GRCh38
NC_000023.10:g.153608057T>C , CM000685.1:g.153608057T>C	GRCh37
NC_000023.9:g.153261251T>C	NCBI36
NG_008677.1:g.10262T>C , LRG_745:g.10262T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.90T>C	ENSP00000507245.1:p.Thr30=
ENST00000682478.1:n.66T>C
ENST00000683576.1:n.66T>C
ENST00000683627.1:c.90T>C	ENSP00000507533.1:p.Thr30=
ENST00000684082.1:c.90T>C	ENSP00000508266.1:p.Thr30=
ENST00000684633.1:n.62T>C
ENST00000684678.1:c.86T>C	ENSP00000507059.1:p.Leu29Pro
ENST00000369842.9:c.90T>C MANE Select	ENSP00000358857.4:p.Thr30=
ENST00000369835.3:c.82+131T>C	ENSP00000358850.3:n.82+131T>C
ENST00000369842.8:c.90T>C	ENSP00000358857.4:p.Thr30=
ENST00000428228.5:c.61T>C	ENSP00000401081.1:p.Ser21Pro
ENST00000468294.5:n.50T>C
ENST00000485261.1:n.163+131T>C
ENST00000486738.5:n.234T>C
ENST00000492448.1:n.73T>C
ENST00000494443.5:n.147T>C
NM_000117.2:c.90T>C , LRG_745t1:c.90T>C	NP_000108.1:p.Thr30=
XM_024452349.1:c.-119T>C	XP_024308117.1:n.-119T>C
NM_000117.3:c.90T>C MANE Select	NP_000108.1:p.Thr30=