Canonical Allele Identifier: CA10561522

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379780C>T , CM000685.2:g.154379780C>T	GRCh38
NC_000023.10:g.153608140C>T , CM000685.1:g.153608140C>T	GRCh37
NC_000023.9:g.153261334C>T	NCBI36
NG_008677.1:g.10345C>T , LRG_745:g.10345C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.173C>T MANE Select	NP_000108.1:p.Ser58Phe
ENST00000369842.9:c.173C>T MANE Select	ENSP00000358857.4:p.Ser58Phe
NM_000117.2:c.173C>T , LRG_745t1:c.173C>T	NP_000108.1:p.Ser58Phe
ENST00000369835.3:c.83-162C>T	ENSP00000358850.3:n.83-162C>T
ENST00000369842.8:c.173C>T	ENSP00000358857.4:p.Ser58Phe
ENST00000428228.5:c.*78C>T	ENSP00000401081.1:n.*78C>T
ENST00000468294.5:n.133C>T
ENST00000485261.1:n.164-162C>T
ENST00000486738.5:n.317C>T
ENST00000492448.1:n.156C>T
ENST00000494443.5:n.230C>T
ENST00000682114.1:c.173C>T	ENSP00000507245.1:p.Ser58Phe
ENST00000682478.1:n.149C>T
ENST00000683576.1:n.149C>T
ENST00000683627.1:c.173C>T	ENSP00000507533.1:p.Ser58Phe
ENST00000684082.1:c.173C>T	ENSP00000508266.1:p.Ser58Phe
ENST00000684633.1:n.145C>T
ENST00000684678.1:c.169C>T	ENSP00000507059.1:p.Leu57Phe
XM_024452349.1:c.-36C>T	XP_024308117.1:n.-36C>T