Canonical Allele Identifier: CA1138576442

Gene: EMD

Linked Data

• dbSNP Id: rs2067881099
• gnomAD v3: X-154380501-A-C
• gnomAD v4: X-154380501-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380501A>C , CM000685.2:g.154380501A>C	GRCh38
NC_000023.10:g.153608861A>C , CM000685.1:g.153608861A>C	GRCh37
NC_000023.9:g.153262055A>C	NCBI36
NG_008677.1:g.11066A>C , LRG_745:g.11066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+134A>C	ENSP00000507245.1:n.399+134A>C
ENST00000682478.1:n.589+134A>C
ENST00000683576.1:n.589+134A>C
ENST00000683627.1:c.399+134A>C	ENSP00000507533.1:n.399+134A>C
ENST00000684082.1:c.356+134A>C	ENSP00000508266.1:n.356+134A>C
ENST00000684633.1:n.371+134A>C
ENST00000684678.1:c.395+134A>C	ENSP00000507059.1:n.395+134A>C
ENST00000369842.9:c.399+134A>C MANE Select	ENSP00000358857.4:n.399+134A>C
ENST00000369835.3:c.294+134A>C	ENSP00000358850.3:n.294+134A>C
ENST00000369842.8:c.399+134A>C	ENSP00000358857.4:n.399+134A>C
ENST00000428228.5:c.*304+134A>C	ENSP00000401081.1:n.*304+134A>C
ENST00000468294.5:n.359+134A>C
ENST00000485261.1:n.589+134A>C
ENST00000486738.5:n.757+134A>C
ENST00000492448.1:n.382+134A>C
NM_000117.2:c.399+134A>C , LRG_745t1:c.399+134A>C	NP_000108.1:n.399+134A>C
XM_024452349.1:c.405+134A>C	XP_024308117.1:n.405+134A>C
NM_000117.3:c.399+134A>C MANE Select	NP_000108.1:n.399+134A>C