Canonical Allele Identifier: CA645171830

Gene: EMD

Linked Data

• dbSNP Id: rs1447152743
• gnomAD v2: X-153607771-C-T
• gnomAD v3: X-154379411-C-T
• gnomAD v4: X-154379411-C-T
• MyVariant Identifiers: chrX:g.153607771C>T (hg19) ; chrX:g.154379411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379411C>T , CM000685.2:g.154379411C>T	GRCh38
NC_000023.10:g.153607771C>T , CM000685.1:g.153607771C>T	GRCh37
NC_000023.9:g.153260965C>T	NCBI36
NG_008677.1:g.9976C>T , LRG_745:g.9976C>T
NG_011506.1:g.236G>A
NG_011506.2:g.228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-74C>T MANE Select	ENSP00000358857.4:n.-74C>T
ENST00000369835.3:c.-74C>T	ENSP00000358850.3:n.-74C>T
ENST00000369842.8:c.-74C>T	ENSP00000358857.4:n.-74C>T
ENST00000428228.5:c.-74C>T	ENSP00000401081.1:n.-74C>T
ENST00000485261.1:n.8C>T
ENST00000486738.5:n.71C>T
NM_000117.2:c.-74C>T , LRG_745t1:c.-74C>T	NP_000108.1:n.-74C>T
XM_024452349.1:c.-282C>T	XP_024308117.1:n.-282C>T
NM_000117.3:c.-74C>T MANE Select	NP_000108.1:n.-74C>T