Canonical Allele Identifier: CA415258774

Gene: EMD

Linked Data

• gnomAD v4: X-154380976-T-C
• MyVariant Identifiers: chrX:g.153609336T>C (hg19) ; chrX:g.154380976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380976T>C , CM000685.2:g.154380976T>C	GRCh38
NC_000023.10:g.153609336T>C , CM000685.1:g.153609336T>C	GRCh37
NC_000023.9:g.153262530T>C	NCBI36
NG_008677.1:g.11541T>C , LRG_745:g.11541T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.544T>C	ENSP00000507245.1:p.Tyr182His
ENST00000682478.1:n.734T>C
ENST00000683576.1:n.734T>C
ENST00000683627.1:c.544T>C	ENSP00000507533.1:p.Tyr182His
ENST00000684082.1:c.501T>C	ENSP00000508266.1:n.501T>C
ENST00000684633.1:n.516T>C
ENST00000684678.1:c.540T>C	ENSP00000507059.1:n.540T>C
ENST00000369842.9:c.544T>C MANE Select	ENSP00000358857.4:p.Tyr182His
ENST00000369835.3:c.439T>C	ENSP00000358850.3:p.Tyr147His
ENST00000369842.8:c.544T>C	ENSP00000358857.4:p.Tyr182His
ENST00000428228.5:c.*449T>C	ENSP00000401081.1:n.*449T>C
ENST00000471965.1:n.333T>C
ENST00000486738.5:n.981T>C
ENST00000492448.1:n.527T>C
NM_000117.2:c.544T>C , LRG_745t1:c.544T>C	NP_000108.1:p.Tyr182His
XM_024452349.1:c.550T>C	XP_024308117.1:p.Tyr184His
NM_000117.3:c.544T>C MANE Select	NP_000108.1:p.Tyr182His