Canonical Allele Identifier: CA2695114897

Gene: EMD

Linked Data

• gnomAD v4: X-154379310-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379310C>T , CM000685.2:g.154379310C>T	GRCh38
NC_000023.10:g.153607670C>T , CM000685.1:g.153607670C>T	GRCh37
NC_000023.9:g.153260864C>T	NCBI36
NG_008677.1:g.9875C>T , LRG_745:g.9875C>T
NG_011506.1:g.337G>A
NG_011506.2:g.329G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369842.9:c.-175C>T MANE Select	ENSP00000358857.4:n.-175C>T
ENST00000369835.3:c.-175C>T	ENSP00000358850.3:n.-175C>T
ENST00000369842.8:c.-175C>T	ENSP00000358857.4:n.-175C>T
NM_000117.2:c.-175C>T , LRG_745t1:c.-175C>T	NP_000108.1:n.-175C>T
XM_024452349.1:c.-383C>T	XP_024308117.1:n.-383C>T
NM_000117.3:c.-175C>T MANE Select	NP_000108.1:n.-175C>T