Canonical Allele Identifier: CA415257332

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608065T>C (hg19) ; chrX:g.154379705T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379705T>C , CM000685.2:g.154379705T>C	GRCh38
NC_000023.10:g.153608065T>C , CM000685.1:g.153608065T>C	GRCh37
NC_000023.9:g.153261259T>C	NCBI36
NG_008677.1:g.10270T>C , LRG_745:g.10270T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.98T>C	ENSP00000507245.1:p.Leu33Pro
ENST00000682478.1:n.74T>C
ENST00000683576.1:n.74T>C
ENST00000683627.1:c.98T>C	ENSP00000507533.1:p.Leu33Pro
ENST00000684082.1:c.98T>C	ENSP00000508266.1:p.Leu33Pro
ENST00000684633.1:n.70T>C
ENST00000684678.1:c.94T>C	ENSP00000507059.1:p.Phe32Leu
ENST00000369842.9:c.98T>C MANE Select	ENSP00000358857.4:p.Leu33Pro
ENST00000369835.3:c.82+139T>C	ENSP00000358850.3:n.82+139T>C
ENST00000369842.8:c.98T>C	ENSP00000358857.4:p.Leu33Pro
ENST00000428228.5:c.*3T>C	ENSP00000401081.1:n.*3T>C
ENST00000468294.5:n.58T>C
ENST00000485261.1:n.163+139T>C
ENST00000486738.5:n.242T>C
ENST00000492448.1:n.81T>C
ENST00000494443.5:n.155T>C
NM_000117.2:c.98T>C , LRG_745t1:c.98T>C	NP_000108.1:p.Leu33Pro
XM_024452349.1:c.-111T>C	XP_024308117.1:n.-111T>C
NM_000117.3:c.98T>C MANE Select	NP_000108.1:p.Leu33Pro