Canonical Allele Identifier: CA415258987

Gene: EMD

Linked Data

• gnomAD v4: X-154381031-G-C
• MyVariant Identifiers: chrX:g.153609391G>C (hg19) ; chrX:g.154381031G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381031G>C , CM000685.2:g.154381031G>C	GRCh38
NC_000023.10:g.153609391G>C , CM000685.1:g.153609391G>C	GRCh37
NC_000023.9:g.153262585G>C	NCBI36
NG_008677.1:g.11596G>C , LRG_745:g.11596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+27G>C	ENSP00000507245.1:n.572+27G>C
ENST00000682478.1:n.762+27G>C
ENST00000683576.1:n.789G>C
ENST00000683627.1:c.599G>C	ENSP00000507533.1:p.Trp200Ser
ENST00000684082.1:c.556G>C	ENSP00000508266.1:n.556G>C
ENST00000684633.1:n.571G>C
ENST00000684678.1:c.568+27G>C	ENSP00000507059.1:n.568+27G>C
ENST00000369842.9:c.599G>C MANE Select	ENSP00000358857.4:p.Trp200Ser
ENST00000369835.3:c.494G>C	ENSP00000358850.3:p.Trp165Ser
ENST00000369842.8:c.599G>C	ENSP00000358857.4:p.Trp200Ser
ENST00000428228.5:c.*504G>C	ENSP00000401081.1:n.*504G>C
ENST00000471965.1:n.388G>C
ENST00000486738.5:n.1036G>C
ENST00000492448.1:n.582G>C
NM_000117.2:c.599G>C , LRG_745t1:c.599G>C	NP_000108.1:p.Trp200Ser
XM_024452349.1:c.605G>C	XP_024308117.1:p.Trp202Ser
NM_000117.3:c.599G>C MANE Select	NP_000108.1:p.Trp200Ser