Canonical Allele Identifier: CA645290607

Gene: EMD

Linked Data

• dbSNP Id: rs1557182386
• gnomAD v2: X-153608393-T-C
• gnomAD v4: X-154380033-T-C
• MyVariant Identifiers: chrX:g.153608393T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380033T>C , CM000685.2:g.154380033T>C	GRCh38
NC_000023.10:g.153608393T>C , CM000685.1:g.153608393T>C	GRCh37
NC_000023.9:g.153261587T>C	NCBI36
NG_008677.1:g.10598T>C , LRG_745:g.10598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+14T>C	ENSP00000507245.1:n.265+14T>C
ENST00000682478.1:n.255T>C
ENST00000683576.1:n.255T>C
ENST00000683627.1:c.265+14T>C	ENSP00000507533.1:n.265+14T>C
ENST00000684082.1:c.265+14T>C	ENSP00000508266.1:n.265+14T>C
ENST00000684633.1:n.237+14T>C
ENST00000684678.1:c.261+14T>C	ENSP00000507059.1:n.261+14T>C
ENST00000369842.9:c.265+14T>C MANE Select	ENSP00000358857.4:n.265+14T>C
ENST00000369835.3:c.160+14T>C	ENSP00000358850.3:n.160+14T>C
ENST00000369842.8:c.265+14T>C	ENSP00000358857.4:n.265+14T>C
ENST00000428228.5:c.*170+14T>C	ENSP00000401081.1:n.*170+14T>C
ENST00000468294.5:n.225+14T>C
ENST00000485261.1:n.255T>C
ENST00000486738.5:n.423T>C
ENST00000492448.1:n.248+14T>C
ENST00000494443.5:n.336T>C
NM_000117.2:c.265+14T>C , LRG_745t1:c.265+14T>C	NP_000108.1:n.265+14T>C
XM_024452349.1:c.71T>C	XP_024308117.1:p.Leu24Ser
NM_000117.3:c.265+14T>C MANE Select	NP_000108.1:n.265+14T>C