Canonical Allele Identifier: CA2695114978

Gene: EMD

Linked Data

• gnomAD v4: X-154379405-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379405G>T , CM000685.2:g.154379405G>T	GRCh38
NC_000023.10:g.153607765G>T , CM000685.1:g.153607765G>T	GRCh37
NC_000023.9:g.153260959G>T	NCBI36
NG_008677.1:g.9970G>T , LRG_745:g.9970G>T
NG_011506.1:g.242C>A
NG_011506.2:g.234C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-80G>T MANE Select	ENSP00000358857.4:n.-80G>T
ENST00000369835.3:c.-80G>T	ENSP00000358850.3:n.-80G>T
ENST00000369842.8:c.-80G>T	ENSP00000358857.4:n.-80G>T
ENST00000428228.5:c.-80G>T	ENSP00000401081.1:n.-80G>T
ENST00000485261.1:n.2G>T
ENST00000486738.5:n.65G>T
NM_000117.2:c.-80G>T , LRG_745t1:c.-80G>T	NP_000108.1:n.-80G>T
XM_024452349.1:c.-288G>T	XP_024308117.1:n.-288G>T
NM_000117.3:c.-80G>T MANE Select	NP_000108.1:n.-80G>T