Canonical Allele Identifier: CA2579738582

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380030G>C , CM000685.2:g.154380030G>C	GRCh38
NC_000023.10:g.153608390G>C , CM000685.1:g.153608390G>C	GRCh37
NC_000023.9:g.153261584G>C	NCBI36
NG_008677.1:g.10595G>C , LRG_745:g.10595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+11G>C	ENSP00000507245.1:n.265+11G>C
ENST00000682478.1:n.252G>C
ENST00000683576.1:n.252G>C
ENST00000683627.1:c.265+11G>C	ENSP00000507533.1:n.265+11G>C
ENST00000684082.1:c.265+11G>C	ENSP00000508266.1:n.265+11G>C
ENST00000684633.1:n.237+11G>C
ENST00000684678.1:c.261+11G>C	ENSP00000507059.1:n.261+11G>C
ENST00000369842.9:c.265+11G>C MANE Select	ENSP00000358857.4:n.265+11G>C
ENST00000369835.3:c.160+11G>C	ENSP00000358850.3:n.160+11G>C
ENST00000369842.8:c.265+11G>C	ENSP00000358857.4:n.265+11G>C
ENST00000428228.5:c.*170+11G>C	ENSP00000401081.1:n.*170+11G>C
ENST00000468294.5:n.225+11G>C
ENST00000485261.1:n.252G>C
ENST00000486738.5:n.420G>C
ENST00000492448.1:n.248+11G>C
ENST00000494443.5:n.333G>C
NM_000117.2:c.265+11G>C , LRG_745t1:c.265+11G>C	NP_000108.1:n.265+11G>C
XM_024452349.1:c.68G>C	XP_024308117.1:p.Gly23Ala
NM_000117.3:c.265+11G>C MANE Select	NP_000108.1:n.265+11G>C