Canonical Allele Identifier: CA2695115014

Gene: EMD

Linked Data

• gnomAD v4: X-154379464-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379464C>T , CM000685.2:g.154379464C>T	GRCh38
NC_000023.10:g.153607824C>T , CM000685.1:g.153607824C>T	GRCh37
NC_000023.9:g.153261018C>T	NCBI36
NG_008677.1:g.10029C>T , LRG_745:g.10029C>T
NG_011506.1:g.183G>A
NG_011506.2:g.175G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.-21C>T	ENSP00000507245.1:n.-21C>T
ENST00000369842.9:c.-21C>T MANE Select	ENSP00000358857.4:n.-21C>T
ENST00000369835.3:c.-21C>T	ENSP00000358850.3:n.-21C>T
ENST00000369842.8:c.-21C>T	ENSP00000358857.4:n.-21C>T
ENST00000428228.5:c.-21C>T	ENSP00000401081.1:n.-21C>T
ENST00000485261.1:n.61C>T
ENST00000486738.5:n.124C>T
ENST00000494443.5:n.37C>T
NM_000117.2:c.-21C>T , LRG_745t1:c.-21C>T	NP_000108.1:n.-21C>T
XM_024452349.1:c.-229C>T	XP_024308117.1:n.-229C>T
NM_000117.3:c.-21C>T MANE Select	NP_000108.1:n.-21C>T