Canonical Allele Identifier: CA415257682

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608344C>T (hg19) ; chrX:g.154379984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379984C>T , CM000685.2:g.154379984C>T	GRCh38
NC_000023.10:g.153608344C>T , CM000685.1:g.153608344C>T	GRCh37
NC_000023.9:g.153261538C>T	NCBI36
NG_008677.1:g.10549C>T , LRG_745:g.10549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.230C>T	ENSP00000507245.1:p.Pro77Leu
ENST00000682478.1:n.206C>T
ENST00000683576.1:n.206C>T
ENST00000683627.1:c.230C>T	ENSP00000507533.1:p.Pro77Leu
ENST00000684082.1:c.230C>T	ENSP00000508266.1:p.Pro77Leu
ENST00000684633.1:n.202C>T
ENST00000684678.1:c.226C>T	ENSP00000507059.1:n.226C>T
ENST00000369842.9:c.230C>T MANE Select	ENSP00000358857.4:p.Pro77Leu
ENST00000369835.3:c.125C>T	ENSP00000358850.3:p.Pro42Leu
ENST00000369842.8:c.230C>T	ENSP00000358857.4:p.Pro77Leu
ENST00000428228.5:c.*135C>T	ENSP00000401081.1:n.*135C>T
ENST00000468294.5:n.190C>T
ENST00000485261.1:n.206C>T
ENST00000486738.5:n.374C>T
ENST00000492448.1:n.213C>T
ENST00000494443.5:n.287C>T
NM_000117.2:c.230C>T , LRG_745t1:c.230C>T	NP_000108.1:p.Pro77Leu
XM_024452349.1:c.22C>T	XP_024308117.1:p.Pro8Ser
NM_000117.3:c.230C>T MANE Select	NP_000108.1:p.Pro77Leu