Canonical Allele Identifier: CA2695115013

Gene: EMD

Linked Data

• gnomAD v4: X-154379463-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379463T>C , CM000685.2:g.154379463T>C	GRCh38
NC_000023.10:g.153607823T>C , CM000685.1:g.153607823T>C	GRCh37
NC_000023.9:g.153261017T>C	NCBI36
NG_008677.1:g.10028T>C , LRG_745:g.10028T>C
NG_011506.1:g.184A>G
NG_011506.2:g.176A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.-22T>C	ENSP00000507245.1:n.-22T>C
ENST00000369842.9:c.-22T>C MANE Select	ENSP00000358857.4:n.-22T>C
ENST00000369835.3:c.-22T>C	ENSP00000358850.3:n.-22T>C
ENST00000369842.8:c.-22T>C	ENSP00000358857.4:n.-22T>C
ENST00000428228.5:c.-22T>C	ENSP00000401081.1:n.-22T>C
ENST00000485261.1:n.60T>C
ENST00000486738.5:n.123T>C
ENST00000494443.5:n.36T>C
NM_000117.2:c.-22T>C , LRG_745t1:c.-22T>C	NP_000108.1:n.-22T>C
XM_024452349.1:c.-230T>C	XP_024308117.1:n.-230T>C
NM_000117.3:c.-22T>C MANE Select	NP_000108.1:n.-22T>C