Canonical Allele Identifier: CA4047140

Gene: IYD

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398104G>A , CM000668.2:g.150398104G>A	GRCh38
NC_000006.11:g.150719240G>A , CM000668.1:g.150719240G>A	GRCh37
NC_000006.10:g.150760933G>A	NCBI36
NG_016007.1:g.34213G>A
NG_016007.2:g.34213G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203395.3:c.737G>A MANE Select	NP_981932.1:p.Arg246Gln
ENST00000344419.8:c.737G>A MANE Select	ENSP00000343763.4:p.Arg246Gln
NM_001164694.1:c.849G>A	NP_001158166.1:p.Ser283=
NM_001164694.2:c.849G>A	NP_001158166.1:p.Ser283=
NM_001164695.1:c.*54G>A	NP_001158167.1:n.*54G>A
NM_001164695.2:c.*54G>A	NP_001158167.1:n.*54G>A
NM_001318495.1:c.491G>A	NP_001305424.1:p.Arg164Gln
NM_001318495.2:c.491G>A	NP_001305424.1:p.Arg164Gln
NM_203395.2:c.737G>A	NP_981932.1:p.Arg246Gln
NR_134655.1:n.1050G>A
NR_134655.2:n.930G>A
ENST00000229447.9:c.849G>A	ENSP00000229447.5:p.Ser283=
ENST00000344419.7:c.737G>A	ENSP00000343763.3:p.Arg246Gln
ENST00000367335.7:c.*166G>A	ENSP00000356304.3:n.*166G>A
ENST00000392256.6:c.*54G>A	ENSP00000376085.2:n.*54G>A
ENST00000422583.2:c.546G>A	ENSP00000397342.2:n.546G>A
XM_006715478.2:c.852G>A	XP_006715541.1:p.Ser284=
XM_006715478.3:c.852G>A	XP_006715541.1:p.Ser284=
XM_006715479.2:c.687G>A	XP_006715542.1:p.Ser229=
XM_006715479.3:c.687G>A	XP_006715542.1:p.Ser229=
XR_245516.3:n.1073G>A