Canonical Allele Identifier: CA2695115271

Gene: EMD

Linked Data

• gnomAD v4: X-154380562-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380562T>C , CM000685.2:g.154380562T>C	GRCh38
NC_000023.10:g.153608922T>C , CM000685.1:g.153608922T>C	GRCh37
NC_000023.9:g.153262116T>C	NCBI36
NG_008677.1:g.11127T>C , LRG_745:g.11127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-191T>C	ENSP00000507245.1:n.400-191T>C
ENST00000682478.1:n.590-191T>C
ENST00000683576.1:n.590-191T>C
ENST00000683627.1:c.400-191T>C	ENSP00000507533.1:n.400-191T>C
ENST00000684082.1:c.357-191T>C	ENSP00000508266.1:n.357-191T>C
ENST00000684633.1:n.372-191T>C
ENST00000684678.1:c.396-191T>C	ENSP00000507059.1:n.396-191T>C
ENST00000369842.9:c.400-191T>C MANE Select	ENSP00000358857.4:n.400-191T>C
ENST00000369835.3:c.295-191T>C	ENSP00000358850.3:n.295-191T>C
ENST00000369842.8:c.400-191T>C	ENSP00000358857.4:n.400-191T>C
ENST00000428228.5:c.*305-191T>C	ENSP00000401081.1:n.*305-191T>C
ENST00000468294.5:n.360-191T>C
ENST00000485261.1:n.590-191T>C
ENST00000486738.5:n.758-191T>C
ENST00000492448.1:n.383-191T>C
NM_000117.2:c.400-191T>C , LRG_745t1:c.400-191T>C	NP_000108.1:n.400-191T>C
XM_024452349.1:c.406-191T>C	XP_024308117.1:n.406-191T>C
NM_000117.3:c.400-191T>C MANE Select	NP_000108.1:n.400-191T>C