Canonical Allele Identifier: CA366030442

Gene: IYD

Linked Data

• MyVariant Identifiers: chr6:g.150710598C>G (hg19) ; chr6:g.150389462C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389462C>G , CM000668.2:g.150389462C>G	GRCh38
NC_000006.11:g.150710598C>G , CM000668.1:g.150710598C>G	GRCh37
NC_000006.10:g.150752291C>G	NCBI36
NG_016007.1:g.25571C>G
NG_016007.2:g.25571C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.289C>G MANE Select	ENSP00000343763.4:p.Leu97Val
ENST00000229447.9:c.289C>G	ENSP00000229447.5:p.Leu97Val
ENST00000344419.7:c.289C>G	ENSP00000343763.3:p.Leu97Val
ENST00000367335.7:c.289C>G	ENSP00000356304.3:p.Leu97Val
ENST00000392255.7:c.289C>G	ENSP00000376084.3:p.Leu97Val
ENST00000392256.6:c.289C>G	ENSP00000376085.2:p.Leu97Val
ENST00000422583.2:c.166C>G	ENSP00000397342.2:p.Leu56Val
ENST00000425615.3:c.124C>G	ENSP00000390081.3:p.Leu42Val
ENST00000500320.7:c.289C>G	ENSP00000441276.1:p.Leu97Val
ENST00000546121.1:n.232C>G
NM_001164694.1:c.289C>G	NP_001158166.1:p.Leu97Val
NM_001164695.1:c.289C>G	NP_001158167.1:p.Leu97Val
NM_203395.2:c.289C>G	NP_981932.1:p.Leu97Val
XM_006715478.2:c.289C>G	XP_006715541.1:p.Leu97Val
XM_006715479.2:c.124C>G	XP_006715542.1:p.Leu42Val
XR_245516.3:n.452C>G
NM_001318495.1:c.111C>G	NP_001305424.1:p.Phe37Leu
NR_134655.1:n.429C>G
XM_006715478.3:c.289C>G	XP_006715541.1:p.Leu97Val
XM_006715479.3:c.124C>G	XP_006715542.1:p.Leu42Val
NM_001164694.2:c.289C>G	NP_001158166.1:p.Leu97Val
NM_001164695.2:c.289C>G	NP_001158167.1:p.Leu97Val
NM_001318495.2:c.111C>G	NP_001305424.1:p.Phe37Leu
NM_203395.3:c.289C>G MANE Select	NP_981932.1:p.Leu97Val
NR_134655.2:n.309C>G