Canonical Allele Identifier: CA415258448

Gene: EMD

Linked Data

• COSMIC: COSM1731174
• MyVariant Identifiers: chrX:g.153609254G>T (hg19) ; chrX:g.154380894G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380894G>T , CM000685.2:g.154380894G>T	GRCh38
NC_000023.10:g.153609254G>T , CM000685.1:g.153609254G>T	GRCh37
NC_000023.9:g.153262448G>T	NCBI36
NG_008677.1:g.11459G>T , LRG_745:g.11459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.462G>T	ENSP00000507245.1:p.Met154Ile
ENST00000682478.1:n.652G>T
ENST00000683576.1:n.652G>T
ENST00000683627.1:c.462G>T	ENSP00000507533.1:p.Met154Ile
ENST00000684082.1:c.419G>T	ENSP00000508266.1:n.419G>T
ENST00000684633.1:n.434G>T
ENST00000684678.1:c.458G>T	ENSP00000507059.1:n.458G>T
ENST00000369842.9:c.462G>T MANE Select	ENSP00000358857.4:p.Met154Ile
ENST00000369835.3:c.357G>T	ENSP00000358850.3:p.Met119Ile
ENST00000369842.8:c.462G>T	ENSP00000358857.4:p.Met154Ile
ENST00000428228.5:c.*367G>T	ENSP00000401081.1:n.*367G>T
ENST00000468294.5:n.501G>T
ENST00000471965.1:n.251G>T
ENST00000485261.1:n.731G>T
ENST00000486738.5:n.899G>T
ENST00000492448.1:n.445G>T
NM_000117.2:c.462G>T , LRG_745t1:c.462G>T	NP_000108.1:p.Met154Ile
XM_024452349.1:c.468G>T	XP_024308117.1:p.Met156Ile
NM_000117.3:c.462G>T MANE Select	NP_000108.1:p.Met154Ile