Canonical Allele Identifier: CA415258642

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609303T>C (hg19) ; chrX:g.154380943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380943T>C , CM000685.2:g.154380943T>C	GRCh38
NC_000023.10:g.153609303T>C , CM000685.1:g.153609303T>C	GRCh37
NC_000023.9:g.153262497T>C	NCBI36
NG_008677.1:g.11508T>C , LRG_745:g.11508T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.511T>C	ENSP00000507245.1:p.Ser171Pro
ENST00000682478.1:n.701T>C
ENST00000683576.1:n.701T>C
ENST00000683627.1:c.511T>C	ENSP00000507533.1:p.Ser171Pro
ENST00000684082.1:c.468T>C	ENSP00000508266.1:n.468T>C
ENST00000684633.1:n.483T>C
ENST00000684678.1:c.507T>C	ENSP00000507059.1:n.507T>C
ENST00000369842.9:c.511T>C MANE Select	ENSP00000358857.4:p.Ser171Pro
ENST00000369835.3:c.406T>C	ENSP00000358850.3:p.Ser136Pro
ENST00000369842.8:c.511T>C	ENSP00000358857.4:p.Ser171Pro
ENST00000428228.5:c.*416T>C	ENSP00000401081.1:n.*416T>C
ENST00000471965.1:n.300T>C
ENST00000485261.1:n.780T>C
ENST00000486738.5:n.948T>C
ENST00000492448.1:n.494T>C
NM_000117.2:c.511T>C , LRG_745t1:c.511T>C	NP_000108.1:p.Ser171Pro
XM_024452349.1:c.517T>C	XP_024308117.1:p.Ser173Pro
NM_000117.3:c.511T>C MANE Select	NP_000108.1:p.Ser171Pro