Canonical Allele Identifier: CA2695115200

Gene: EMD

Linked Data

• gnomAD v4: X-154380419-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380419G>C , CM000685.2:g.154380419G>C	GRCh38
NC_000023.10:g.153608779G>C , CM000685.1:g.153608779G>C	GRCh37
NC_000023.9:g.153261973G>C	NCBI36
NG_008677.1:g.10984G>C , LRG_745:g.10984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+52G>C	ENSP00000507245.1:n.399+52G>C
ENST00000682478.1:n.589+52G>C
ENST00000683576.1:n.589+52G>C
ENST00000683627.1:c.399+52G>C	ENSP00000507533.1:n.399+52G>C
ENST00000684082.1:c.356+52G>C	ENSP00000508266.1:n.356+52G>C
ENST00000684633.1:n.371+52G>C
ENST00000684678.1:c.395+52G>C	ENSP00000507059.1:n.395+52G>C
ENST00000369842.9:c.399+52G>C MANE Select	ENSP00000358857.4:n.399+52G>C
ENST00000369835.3:c.294+52G>C	ENSP00000358850.3:n.294+52G>C
ENST00000369842.8:c.399+52G>C	ENSP00000358857.4:n.399+52G>C
ENST00000428228.5:c.*304+52G>C	ENSP00000401081.1:n.*304+52G>C
ENST00000468294.5:n.359+52G>C
ENST00000485261.1:n.589+52G>C
ENST00000486738.5:n.757+52G>C
ENST00000492448.1:n.382+52G>C
ENST00000494443.5:n.722G>C
NM_000117.2:c.399+52G>C , LRG_745t1:c.399+52G>C	NP_000108.1:n.399+52G>C
XM_024452349.1:c.405+52G>C	XP_024308117.1:n.405+52G>C
NM_000117.3:c.399+52G>C MANE Select	NP_000108.1:n.399+52G>C