Canonical Allele Identifier: CA415258437

Gene: EMD

Linked Data

• dbSNP Id: rs782806462
• gnomAD v2: X-153609252-A-C
• gnomAD v4: X-154380892-A-C
• MyVariant Identifiers: chrX:g.153609252A>C (hg19) ; chrX:g.154380892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380892A>C , CM000685.2:g.154380892A>C	GRCh38
NC_000023.10:g.153609252A>C , CM000685.1:g.153609252A>C	GRCh37
NC_000023.9:g.153262446A>C	NCBI36
NG_008677.1:g.11457A>C , LRG_745:g.11457A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.460A>C	ENSP00000507245.1:p.Met154Leu
ENST00000682478.1:n.650A>C
ENST00000683576.1:n.650A>C
ENST00000683627.1:c.460A>C	ENSP00000507533.1:p.Met154Leu
ENST00000684082.1:c.417A>C	ENSP00000508266.1:n.417A>C
ENST00000684633.1:n.432A>C
ENST00000684678.1:c.456A>C	ENSP00000507059.1:n.456A>C
ENST00000369842.9:c.460A>C MANE Select	ENSP00000358857.4:p.Met154Leu
ENST00000369835.3:c.355A>C	ENSP00000358850.3:p.Met119Leu
ENST00000369842.8:c.460A>C	ENSP00000358857.4:p.Met154Leu
ENST00000428228.5:c.*365A>C	ENSP00000401081.1:n.*365A>C
ENST00000468294.5:n.499A>C
ENST00000471965.1:n.249A>C
ENST00000485261.1:n.729A>C
ENST00000486738.5:n.897A>C
ENST00000492448.1:n.443A>C
NM_000117.2:c.460A>C , LRG_745t1:c.460A>C	NP_000108.1:p.Met154Leu
XM_024452349.1:c.466A>C	XP_024308117.1:p.Met156Leu
NM_000117.3:c.460A>C MANE Select	NP_000108.1:p.Met154Leu