Canonical Allele Identifier: CA2695115278

Gene: EMD

Linked Data

• gnomAD v4: X-154380566-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380566G>T , CM000685.2:g.154380566G>T	GRCh38
NC_000023.10:g.153608926G>T , CM000685.1:g.153608926G>T	GRCh37
NC_000023.9:g.153262120G>T	NCBI36
NG_008677.1:g.11131G>T , LRG_745:g.11131G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-187G>T	ENSP00000507245.1:n.400-187G>T
ENST00000682478.1:n.590-187G>T
ENST00000683576.1:n.590-187G>T
ENST00000683627.1:c.400-187G>T	ENSP00000507533.1:n.400-187G>T
ENST00000684082.1:c.357-187G>T	ENSP00000508266.1:n.357-187G>T
ENST00000684633.1:n.372-187G>T
ENST00000684678.1:c.396-187G>T	ENSP00000507059.1:n.396-187G>T
ENST00000369842.9:c.400-187G>T MANE Select	ENSP00000358857.4:n.400-187G>T
ENST00000369835.3:c.295-187G>T	ENSP00000358850.3:n.295-187G>T
ENST00000369842.8:c.400-187G>T	ENSP00000358857.4:n.400-187G>T
ENST00000428228.5:c.*305-187G>T	ENSP00000401081.1:n.*305-187G>T
ENST00000468294.5:n.360-187G>T
ENST00000471965.1:n.2G>T
ENST00000485261.1:n.590-187G>T
ENST00000486738.5:n.758-187G>T
ENST00000492448.1:n.383-187G>T
NM_000117.2:c.400-187G>T , LRG_745t1:c.400-187G>T	NP_000108.1:n.400-187G>T
XM_024452349.1:c.406-187G>T	XP_024308117.1:n.406-187G>T
NM_000117.3:c.400-187G>T MANE Select	NP_000108.1:n.400-187G>T