Canonical Allele Identifier: CA519709844

Gene: EMD

Linked Data

• dbSNP Id: rs1557182570
• gnomAD v2: X-153609160-T-C
• gnomAD v3: X-154380800-T-C
• gnomAD v4: X-154380800-T-C
• MyVariant Identifiers: chrX:g.153609160T>C (hg19) ; chrX:g.154380800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380800T>C , CM000685.2:g.154380800T>C	GRCh38
NC_000023.10:g.153609160T>C , CM000685.1:g.153609160T>C	GRCh37
NC_000023.9:g.153262354T>C	NCBI36
NG_008677.1:g.11365T>C , LRG_745:g.11365T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.447T>C	ENSP00000507245.1:p.Asp149=
ENST00000682478.1:n.637T>C
ENST00000683576.1:n.637T>C
ENST00000683627.1:c.447T>C	ENSP00000507533.1:p.Asp149=
ENST00000684082.1:c.404T>C	ENSP00000508266.1:n.404T>C
ENST00000684633.1:n.419T>C
ENST00000684678.1:c.443T>C	ENSP00000507059.1:n.443T>C
ENST00000369842.9:c.447T>C MANE Select	ENSP00000358857.4:p.Asp149=
ENST00000369835.3:c.342T>C	ENSP00000358850.3:p.Asp114=
ENST00000369842.8:c.447T>C	ENSP00000358857.4:p.Asp149=
ENST00000428228.5:c.*352T>C	ENSP00000401081.1:n.*352T>C
ENST00000468294.5:n.407T>C
ENST00000471965.1:n.236T>C
ENST00000485261.1:n.637T>C
ENST00000486738.5:n.805T>C
ENST00000492448.1:n.430T>C
NM_000117.2:c.447T>C , LRG_745t1:c.447T>C	NP_000108.1:p.Asp149=
XM_024452349.1:c.453T>C	XP_024308117.1:p.Asp151=
NM_000117.3:c.447T>C MANE Select	NP_000108.1:p.Asp149=