Canonical Allele Identifier: CA415257541

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608142T>C (hg19) ; chrX:g.154379782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379782T>C , CM000685.2:g.154379782T>C	GRCh38
NC_000023.10:g.153608142T>C , CM000685.1:g.153608142T>C	GRCh37
NC_000023.9:g.153261336T>C	NCBI36
NG_008677.1:g.10347T>C , LRG_745:g.10347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.175T>C	ENSP00000507245.1:p.Tyr59His
ENST00000682478.1:n.151T>C
ENST00000683576.1:n.151T>C
ENST00000683627.1:c.175T>C	ENSP00000507533.1:p.Tyr59His
ENST00000684082.1:c.175T>C	ENSP00000508266.1:p.Tyr59His
ENST00000684633.1:n.147T>C
ENST00000684678.1:c.171T>C	ENSP00000507059.1:p.Leu57=
ENST00000369842.9:c.175T>C MANE Select	ENSP00000358857.4:p.Tyr59His
ENST00000369835.3:c.83-160T>C	ENSP00000358850.3:n.83-160T>C
ENST00000369842.8:c.175T>C	ENSP00000358857.4:p.Tyr59His
ENST00000428228.5:c.*80T>C	ENSP00000401081.1:n.*80T>C
ENST00000468294.5:n.135T>C
ENST00000485261.1:n.164-160T>C
ENST00000486738.5:n.319T>C
ENST00000492448.1:n.158T>C
ENST00000494443.5:n.232T>C
NM_000117.2:c.175T>C , LRG_745t1:c.175T>C	NP_000108.1:p.Tyr59His
XM_024452349.1:c.-34T>C	XP_024308117.1:n.-34T>C
NM_000117.3:c.175T>C MANE Select	NP_000108.1:p.Tyr59His