Canonical Allele Identifier: CA415259193

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609466T>C (hg19) ; chrX:g.154381106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381106T>C , CM000685.2:g.154381106T>C	GRCh38
NC_000023.10:g.153609466T>C , CM000685.1:g.153609466T>C	GRCh37
NC_000023.9:g.153262660T>C	NCBI36
NG_008677.1:g.11671T>C , LRG_745:g.11671T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+102T>C	ENSP00000507245.1:n.572+102T>C
ENST00000682478.1:n.762+102T>C
ENST00000683576.1:n.864T>C
ENST00000683627.1:c.674T>C	ENSP00000507533.1:p.Leu225Pro
ENST00000684082.1:c.631T>C	ENSP00000508266.1:n.631T>C
ENST00000684633.1:n.646T>C
ENST00000684678.1:c.568+102T>C	ENSP00000507059.1:n.568+102T>C
ENST00000369842.9:c.674T>C MANE Select	ENSP00000358857.4:p.Leu225Pro
ENST00000369835.3:c.569T>C	ENSP00000358850.3:p.Leu190Pro
ENST00000369842.8:c.674T>C	ENSP00000358857.4:p.Leu225Pro
ENST00000428228.5:c.*579T>C	ENSP00000401081.1:n.*579T>C
ENST00000471965.1:n.463T>C
ENST00000486738.5:n.1111T>C
ENST00000492448.1:n.657T>C
NM_000117.2:c.674T>C , LRG_745t1:c.674T>C	NP_000108.1:p.Leu225Pro
XM_024452349.1:c.680T>C	XP_024308117.1:p.Leu227Pro
NM_000117.3:c.674T>C MANE Select	NP_000108.1:p.Leu225Pro