Canonical Allele Identifier: CA366030046

Gene: IYD

Linked Data

• MyVariant Identifiers: chr6:g.150710539C>G (hg19) ; chr6:g.150389403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389403C>G , CM000668.2:g.150389403C>G	GRCh38
NC_000006.11:g.150710539C>G , CM000668.1:g.150710539C>G	GRCh37
NC_000006.10:g.150752232C>G	NCBI36
NG_016007.1:g.25512C>G
NG_016007.2:g.25512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.230C>G MANE Select	ENSP00000343763.4:p.Ser77Cys
ENST00000229447.9:c.230C>G	ENSP00000229447.5:p.Ser77Cys
ENST00000344419.7:c.230C>G	ENSP00000343763.3:p.Ser77Cys
ENST00000367335.7:c.230C>G	ENSP00000356304.3:p.Ser77Cys
ENST00000392255.7:c.230C>G	ENSP00000376084.3:p.Ser77Cys
ENST00000392256.6:c.230C>G	ENSP00000376085.2:p.Ser77Cys
ENST00000422583.2:c.107C>G	ENSP00000397342.2:p.Ser36Cys
ENST00000425615.3:c.65C>G	ENSP00000390081.3:p.Ser22Cys
ENST00000500320.7:c.230C>G	ENSP00000441276.1:p.Ser77Cys
ENST00000546121.1:n.173C>G
NM_001164694.1:c.230C>G	NP_001158166.1:p.Ser77Cys
NM_001164695.1:c.230C>G	NP_001158167.1:p.Ser77Cys
NM_203395.2:c.230C>G	NP_981932.1:p.Ser77Cys
XM_006715478.2:c.230C>G	XP_006715541.1:p.Ser77Cys
XM_006715479.2:c.65C>G	XP_006715542.1:p.Ser22Cys
XR_245516.3:n.393C>G
NM_001318495.1:c.52C>G	NP_001305424.1:p.Leu18Val
NR_134655.1:n.370C>G
XM_006715478.3:c.230C>G	XP_006715541.1:p.Ser77Cys
XM_006715479.3:c.65C>G	XP_006715542.1:p.Ser22Cys
NM_001164694.2:c.230C>G	NP_001158166.1:p.Ser77Cys
NM_001164695.2:c.230C>G	NP_001158167.1:p.Ser77Cys
NM_001318495.2:c.52C>G	NP_001305424.1:p.Leu18Val
NM_203395.3:c.230C>G MANE Select	NP_981932.1:p.Ser77Cys
NR_134655.2:n.250C>G