Canonical Allele Identifier: CA415257733

Gene: EMD

Linked Data

• COSMIC: COSM5656288
• MyVariant Identifiers: chrX:g.153608367T>C (hg19) ; chrX:g.154380007T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380007T>C , CM000685.2:g.154380007T>C	GRCh38
NC_000023.10:g.153608367T>C , CM000685.1:g.153608367T>C	GRCh37
NC_000023.9:g.153261561T>C	NCBI36
NG_008677.1:g.10572T>C , LRG_745:g.10572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.253T>C	ENSP00000507245.1:p.Tyr85His
ENST00000682478.1:n.229T>C
ENST00000683576.1:n.229T>C
ENST00000683627.1:c.253T>C	ENSP00000507533.1:p.Tyr85His
ENST00000684082.1:c.253T>C	ENSP00000508266.1:p.Tyr85His
ENST00000684633.1:n.225T>C
ENST00000684678.1:c.249T>C	ENSP00000507059.1:n.249T>C
ENST00000369842.9:c.253T>C MANE Select	ENSP00000358857.4:p.Tyr85His
ENST00000369835.3:c.148T>C	ENSP00000358850.3:p.Tyr50His
ENST00000369842.8:c.253T>C	ENSP00000358857.4:p.Tyr85His
ENST00000428228.5:c.*158T>C	ENSP00000401081.1:n.*158T>C
ENST00000468294.5:n.213T>C
ENST00000485261.1:n.229T>C
ENST00000486738.5:n.397T>C
ENST00000492448.1:n.236T>C
ENST00000494443.5:n.310T>C
NM_000117.2:c.253T>C , LRG_745t1:c.253T>C	NP_000108.1:p.Tyr85His
XM_024452349.1:c.45T>C	XP_024308117.1:p.Ser15=
NM_000117.3:c.253T>C MANE Select	NP_000108.1:p.Tyr85His