Canonical Allele Identifier: CA452566981

Gene: IYD

Linked Data

• dbSNP Id: rs1188217634
• gnomAD v2: 6-150710522-T-C
• gnomAD v4: 6-150389386-T-C
• MyVariant Identifiers: chr6:g.150710522T>C (hg19) ; chr6:g.150389386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389386T>C , CM000668.2:g.150389386T>C	GRCh38
NC_000006.11:g.150710522T>C , CM000668.1:g.150710522T>C	GRCh37
NC_000006.10:g.150752215T>C	NCBI36
NG_016007.1:g.25495T>C
NG_016007.2:g.25495T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.213T>C MANE Select	ENSP00000343763.4:p.Val71=
ENST00000229447.9:c.213T>C	ENSP00000229447.5:p.Val71=
ENST00000344419.7:c.213T>C	ENSP00000343763.3:p.Val71=
ENST00000367335.7:c.213T>C	ENSP00000356304.3:p.Val71=
ENST00000392255.7:c.213T>C	ENSP00000376084.3:p.Val71=
ENST00000392256.6:c.213T>C	ENSP00000376085.2:p.Val71=
ENST00000422583.2:c.90T>C	ENSP00000397342.2:p.Val30=
ENST00000425615.3:c.48T>C	ENSP00000390081.3:p.Val16=
ENST00000500320.7:c.213T>C	ENSP00000441276.1:p.Val71=
ENST00000546121.1:n.156T>C
NM_001164694.1:c.213T>C	NP_001158166.1:p.Val71=
NM_001164695.1:c.213T>C	NP_001158167.1:p.Val71=
NM_203395.2:c.213T>C	NP_981932.1:p.Val71=
XM_006715478.2:c.213T>C	XP_006715541.1:p.Val71=
XM_006715479.2:c.48T>C	XP_006715542.1:p.Val16=
XR_245516.3:n.376T>C
NM_001318495.1:c.35T>C	NP_001305424.1:p.Leu12Ser
NR_134655.1:n.353T>C
XM_006715478.3:c.213T>C	XP_006715541.1:p.Val71=
XM_006715479.3:c.48T>C	XP_006715542.1:p.Val16=
NM_001164694.2:c.213T>C	NP_001158166.1:p.Val71=
NM_001164695.2:c.213T>C	NP_001158167.1:p.Val71=
NM_001318495.2:c.35T>C	NP_001305424.1:p.Leu12Ser
NM_203395.3:c.213T>C MANE Select	NP_981932.1:p.Val71=
NR_134655.2:n.233T>C