Canonical Allele Identifier: CA1138576604

Gene: EMD

Linked Data

• gnomAD v3: X-154380824-G-T
• gnomAD v4: X-154380824-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380824G>T , CM000685.2:g.154380824G>T	GRCh38
NC_000023.10:g.153609184G>T , CM000685.1:g.153609184G>T	GRCh37
NC_000023.9:g.153262378G>T	NCBI36
NG_008677.1:g.11389G>T , LRG_745:g.11389G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.449+22G>T	ENSP00000507245.1:n.449+22G>T
ENST00000682478.1:n.639+22G>T
ENST00000683576.1:n.639+22G>T
ENST00000683627.1:c.449+22G>T	ENSP00000507533.1:n.449+22G>T
ENST00000684082.1:c.406+22G>T	ENSP00000508266.1:n.406+22G>T
ENST00000684633.1:n.421+22G>T
ENST00000684678.1:c.445+22G>T	ENSP00000507059.1:n.445+22G>T
ENST00000369842.9:c.449+22G>T MANE Select	ENSP00000358857.4:n.449+22G>T
ENST00000369835.3:c.344+22G>T	ENSP00000358850.3:n.344+22G>T
ENST00000369842.8:c.449+22G>T	ENSP00000358857.4:n.449+22G>T
ENST00000428228.5:c.*354+22G>T	ENSP00000401081.1:n.*354+22G>T
ENST00000468294.5:n.431G>T
ENST00000471965.1:n.238+22G>T
ENST00000485261.1:n.661G>T
ENST00000486738.5:n.829G>T
ENST00000492448.1:n.432+22G>T
NM_000117.2:c.449+22G>T , LRG_745t1:c.449+22G>T	NP_000108.1:n.449+22G>T
XM_024452349.1:c.455+22G>T	XP_024308117.1:n.455+22G>T
NM_000117.3:c.449+22G>T MANE Select	NP_000108.1:n.449+22G>T