Canonical Allele Identifier: CA415257386

Gene: EMD

Linked Data

• dbSNP Id: rs2067874941
• gnomAD v3: X-154379718-G-C
• gnomAD v4: X-154379718-G-C
• MyVariant Identifiers: chrX:g.153608078G>C (hg19) ; chrX:g.154379718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379718G>C , CM000685.2:g.154379718G>C	GRCh38
NC_000023.10:g.153608078G>C , CM000685.1:g.153608078G>C	GRCh37
NC_000023.9:g.153261272G>C	NCBI36
NG_008677.1:g.10283G>C , LRG_745:g.10283G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.111G>C	ENSP00000507245.1:p.Lys37Asn
ENST00000682478.1:n.87G>C
ENST00000683576.1:n.87G>C
ENST00000683627.1:c.111G>C	ENSP00000507533.1:p.Lys37Asn
ENST00000684082.1:c.111G>C	ENSP00000508266.1:p.Lys37Asn
ENST00000684633.1:n.83G>C
ENST00000684678.1:c.107G>C	ENSP00000507059.1:p.Arg36Thr
ENST00000369842.9:c.111G>C MANE Select	ENSP00000358857.4:p.Lys37Asn
ENST00000369835.3:c.82+152G>C	ENSP00000358850.3:n.82+152G>C
ENST00000369842.8:c.111G>C	ENSP00000358857.4:p.Lys37Asn
ENST00000428228.5:c.*16G>C	ENSP00000401081.1:n.*16G>C
ENST00000468294.5:n.71G>C
ENST00000485261.1:n.163+152G>C
ENST00000486738.5:n.255G>C
ENST00000492448.1:n.94G>C
ENST00000494443.5:n.168G>C
NM_000117.2:c.111G>C , LRG_745t1:c.111G>C	NP_000108.1:p.Lys37Asn
XM_024452349.1:c.-98G>C	XP_024308117.1:n.-98G>C
NM_000117.3:c.111G>C MANE Select	NP_000108.1:p.Lys37Asn