Canonical Allele Identifier: CA415257277

Gene: EMD

Linked Data

• ClinVar Variation Id: 2742631
• ClinVar RCV Id: RCV003523629
• dbSNP Id: rs1414486158
• gnomAD v2: X-153608053-C-T
• gnomAD v3: X-154379693-C-T
• gnomAD v4: X-154379693-C-T
• MyVariant Identifiers: chrX:g.153608053C>T (hg19) ; chrX:g.154379693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379693C>T , CM000685.2:g.154379693C>T	GRCh38
NC_000023.10:g.153608053C>T , CM000685.1:g.153608053C>T	GRCh37
NC_000023.9:g.153261247C>T	NCBI36
NG_008677.1:g.10258C>T , LRG_745:g.10258C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.86C>T	ENSP00000507245.1:p.Ser29Leu
ENST00000682478.1:n.62C>T
ENST00000683576.1:n.62C>T
ENST00000683627.1:c.86C>T	ENSP00000507533.1:p.Ser29Leu
ENST00000684082.1:c.86C>T	ENSP00000508266.1:p.Ser29Leu
ENST00000684633.1:n.58C>T
ENST00000684678.1:c.82C>T	ENSP00000507059.1:p.Gln28Ter
ENST00000369842.9:c.86C>T MANE Select	ENSP00000358857.4:p.Ser29Leu
ENST00000369835.3:c.82+127C>T	ENSP00000358850.3:n.82+127C>T
ENST00000369842.8:c.86C>T	ENSP00000358857.4:p.Ser29Leu
ENST00000428228.5:c.57C>T	ENSP00000401081.1:p.Ile19=
ENST00000468294.5:n.46C>T
ENST00000485261.1:n.163+127C>T
ENST00000486738.5:n.230C>T
ENST00000492448.1:n.69C>T
ENST00000494443.5:n.143C>T
NM_000117.2:c.86C>T , LRG_745t1:c.86C>T	NP_000108.1:p.Ser29Leu
XM_024452349.1:c.-123C>T	XP_024308117.1:n.-123C>T
NM_000117.3:c.86C>T MANE Select	NP_000108.1:p.Ser29Leu