Canonical Allele Identifier: CA2695115003

Gene: EMD

Linked Data

• gnomAD v4: X-154379446-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379446C>G , CM000685.2:g.154379446C>G	GRCh38
NC_000023.10:g.153607806C>G , CM000685.1:g.153607806C>G	GRCh37
NC_000023.9:g.153261000C>G	NCBI36
NG_008677.1:g.10011C>G , LRG_745:g.10011C>G
NG_011506.1:g.201G>C
NG_011506.2:g.193G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.-39C>G	ENSP00000507245.1:n.-39C>G
ENST00000369842.9:c.-39C>G MANE Select	ENSP00000358857.4:n.-39C>G
ENST00000369835.3:c.-39C>G	ENSP00000358850.3:n.-39C>G
ENST00000369842.8:c.-39C>G	ENSP00000358857.4:n.-39C>G
ENST00000428228.5:c.-39C>G	ENSP00000401081.1:n.-39C>G
ENST00000485261.1:n.43C>G
ENST00000486738.5:n.106C>G
ENST00000494443.5:n.19C>G
NM_000117.2:c.-39C>G , LRG_745t1:c.-39C>G	NP_000108.1:n.-39C>G
XM_024452349.1:c.-247C>G	XP_024308117.1:n.-247C>G
NM_000117.3:c.-39C>G MANE Select	NP_000108.1:n.-39C>G