Canonical Allele Identifier: CA415259169

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609459G>C (hg19) ; chrX:g.154381099G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381099G>C , CM000685.2:g.154381099G>C	GRCh38
NC_000023.10:g.153609459G>C , CM000685.1:g.153609459G>C	GRCh37
NC_000023.9:g.153262653G>C	NCBI36
NG_008677.1:g.11664G>C , LRG_745:g.11664G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+95G>C	ENSP00000507245.1:n.572+95G>C
ENST00000682478.1:n.762+95G>C
ENST00000683576.1:n.857G>C
ENST00000683627.1:c.667G>C	ENSP00000507533.1:p.Val223Leu
ENST00000684082.1:c.624G>C	ENSP00000508266.1:n.624G>C
ENST00000684633.1:n.639G>C
ENST00000684678.1:c.568+95G>C	ENSP00000507059.1:n.568+95G>C
ENST00000369842.9:c.667G>C MANE Select	ENSP00000358857.4:p.Val223Leu
ENST00000369835.3:c.562G>C	ENSP00000358850.3:p.Val188Leu
ENST00000369842.8:c.667G>C	ENSP00000358857.4:p.Val223Leu
ENST00000428228.5:c.*572G>C	ENSP00000401081.1:n.*572G>C
ENST00000471965.1:n.456G>C
ENST00000486738.5:n.1104G>C
ENST00000492448.1:n.650G>C
NM_000117.2:c.667G>C , LRG_745t1:c.667G>C	NP_000108.1:p.Val223Leu
XM_024452349.1:c.673G>C	XP_024308117.1:p.Val225Leu
NM_000117.3:c.667G>C MANE Select	NP_000108.1:p.Val223Leu