Canonical Allele Identifier: CA415258480

Gene: EMD

Linked Data

• gnomAD v4: X-154380902-G-C
• MyVariant Identifiers: chrX:g.153609262G>C (hg19) ; chrX:g.154380902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380902G>C , CM000685.2:g.154380902G>C	GRCh38
NC_000023.10:g.153609262G>C , CM000685.1:g.153609262G>C	GRCh37
NC_000023.9:g.153262456G>C	NCBI36
NG_008677.1:g.11467G>C , LRG_745:g.11467G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.470G>C	ENSP00000507245.1:p.Arg157Pro
ENST00000682478.1:n.660G>C
ENST00000683576.1:n.660G>C
ENST00000683627.1:c.470G>C	ENSP00000507533.1:p.Arg157Pro
ENST00000684082.1:c.427G>C	ENSP00000508266.1:n.427G>C
ENST00000684633.1:n.442G>C
ENST00000684678.1:c.466G>C	ENSP00000507059.1:n.466G>C
ENST00000369842.9:c.470G>C MANE Select	ENSP00000358857.4:p.Arg157Pro
ENST00000369835.3:c.365G>C	ENSP00000358850.3:p.Arg122Pro
ENST00000369842.8:c.470G>C	ENSP00000358857.4:p.Arg157Pro
ENST00000428228.5:c.*375G>C	ENSP00000401081.1:n.*375G>C
ENST00000471965.1:n.259G>C
ENST00000485261.1:n.739G>C
ENST00000486738.5:n.907G>C
ENST00000492448.1:n.453G>C
NM_000117.2:c.470G>C , LRG_745t1:c.470G>C	NP_000108.1:p.Arg157Pro
XM_024452349.1:c.476G>C	XP_024308117.1:p.Arg159Pro
NM_000117.3:c.470G>C MANE Select	NP_000108.1:p.Arg157Pro