Canonical Allele Identifier: CA645171833

Gene: EMD

Linked Data

• dbSNP Id: rs1341564300
• gnomAD v2: X-153607812-G-T
• gnomAD v3: X-154379452-G-T
• gnomAD v4: X-154379452-G-T
• MyVariant Identifiers: chrX:g.153607812_153607823delinsTCCGCCAGGCCT (hg19) ; chrX:g.154379452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379452G>T , CM000685.2:g.154379452G>T	GRCh38
NC_000023.10:g.153607812G>T , CM000685.1:g.153607812G>T	GRCh37
NC_000023.9:g.153261006G>T	NCBI36
NG_008677.1:g.10017G>T , LRG_745:g.10017G>T
NG_011506.1:g.195C>A
NG_011506.2:g.187C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.-33G>T	ENSP00000507245.1:n.-33G>T
ENST00000369842.9:c.-33G>T MANE Select	ENSP00000358857.4:n.-33G>T
ENST00000369835.3:c.-33G>T	ENSP00000358850.3:n.-33G>T
ENST00000369842.8:c.-33G>T	ENSP00000358857.4:n.-33G>T
ENST00000428228.5:c.-33G>T	ENSP00000401081.1:n.-33G>T
ENST00000485261.1:n.49G>T
ENST00000486738.5:n.112G>T
ENST00000494443.5:n.25G>T
NM_000117.2:c.-33G>T , LRG_745t1:c.-33G>T	NP_000108.1:n.-33G>T
XM_024452349.1:c.-241G>T	XP_024308117.1:n.-241G>T
NM_000117.3:c.-33G>T MANE Select	NP_000108.1:n.-33G>T