Canonical Allele Identifier: CA10561634

Gene: EMD

Linked Data

• ClinVar Variation Id: 1011317
• ClinVar RCV Id: RCV001309088 ; RCV001835515 ; RCV002350560
• dbSNP Id: rs782244432
• ExAC: X:153609364 T / C
• gnomAD v2: X-153609364-T-C
• gnomAD v3: X-154381004-T-C
• gnomAD v4: X-154381004-T-C
• MyVariant Identifiers: chrX:g.153609364T>C (hg19) ; chrX:g.154381004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381004T>C , CM000685.2:g.154381004T>C	GRCh38
NC_000023.10:g.153609364T>C , CM000685.1:g.153609364T>C	GRCh37
NC_000023.9:g.153262558T>C	NCBI36
NG_008677.1:g.11569T>C , LRG_745:g.11569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572T>C	ENSP00000507245.1:p.Met191Thr
ENST00000682478.1:n.762T>C
ENST00000683576.1:n.762T>C
ENST00000683627.1:c.572T>C	ENSP00000507533.1:p.Met191Thr
ENST00000684082.1:c.529T>C	ENSP00000508266.1:n.529T>C
ENST00000684633.1:n.544T>C
ENST00000684678.1:c.568T>C	ENSP00000507059.1:n.568T>C
ENST00000369842.9:c.572T>C MANE Select	ENSP00000358857.4:p.Met191Thr
ENST00000369835.3:c.467T>C	ENSP00000358850.3:p.Met156Thr
ENST00000369842.8:c.572T>C	ENSP00000358857.4:p.Met191Thr
ENST00000428228.5:c.*477T>C	ENSP00000401081.1:n.*477T>C
ENST00000471965.1:n.361T>C
ENST00000486738.5:n.1009T>C
ENST00000492448.1:n.555T>C
NM_000117.2:c.572T>C , LRG_745t1:c.572T>C	NP_000108.1:p.Met191Thr
XM_024452349.1:c.578T>C	XP_024308117.1:p.Met193Thr
NM_000117.3:c.572T>C MANE Select	NP_000108.1:p.Met191Thr