Canonical Allele Identifier: CA415258857

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609360T>C (hg19) ; chrX:g.154381000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381000T>C , CM000685.2:g.154381000T>C	GRCh38
NC_000023.10:g.153609360T>C , CM000685.1:g.153609360T>C	GRCh37
NC_000023.9:g.153262554T>C	NCBI36
NG_008677.1:g.11565T>C , LRG_745:g.11565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.568T>C	ENSP00000507245.1:p.Phe190Leu
ENST00000682478.1:n.758T>C
ENST00000683576.1:n.758T>C
ENST00000683627.1:c.568T>C	ENSP00000507533.1:p.Phe190Leu
ENST00000684082.1:c.525T>C	ENSP00000508266.1:n.525T>C
ENST00000684633.1:n.540T>C
ENST00000684678.1:c.564T>C	ENSP00000507059.1:n.564T>C
ENST00000369842.9:c.568T>C MANE Select	ENSP00000358857.4:p.Phe190Leu
ENST00000369835.3:c.463T>C	ENSP00000358850.3:p.Phe155Leu
ENST00000369842.8:c.568T>C	ENSP00000358857.4:p.Phe190Leu
ENST00000428228.5:c.*473T>C	ENSP00000401081.1:n.*473T>C
ENST00000471965.1:n.357T>C
ENST00000486738.5:n.1005T>C
ENST00000492448.1:n.551T>C
NM_000117.2:c.568T>C , LRG_745t1:c.568T>C	NP_000108.1:p.Phe190Leu
XM_024452349.1:c.574T>C	XP_024308117.1:p.Phe192Leu
NM_000117.3:c.568T>C MANE Select	NP_000108.1:p.Phe190Leu