Canonical Allele Identifier: CA150046479

Gene: IYD

Linked Data

• dbSNP Id: rs767100639
• gnomAD v2: 6-150720245-G-A
• gnomAD v3: 6-150399109-G-A
• gnomAD v4: 6-150399109-G-A
• MyVariant Identifiers: chr6:g.150720245G>A (hg19) ; chr6:g.150399109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150399109G>A , CM000668.2:g.150399109G>A	GRCh38
NC_000006.11:g.150720245G>A , CM000668.1:g.150720245G>A	GRCh37
NC_000006.10:g.150761938G>A	NCBI36
NG_016007.1:g.35218G>A
NG_016007.2:g.35218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*872G>A MANE Select	ENSP00000343763.4:n.*872G>A
ENST00000229447.9:c.*972G>A	ENSP00000229447.5:n.*972G>A
ENST00000344419.7:c.*872G>A	ENSP00000343763.3:n.*872G>A
NM_001164694.1:c.*972G>A	NP_001158166.1:n.*972G>A
NM_001164695.1:c.*1059G>A	NP_001158167.1:n.*1059G>A
NM_203395.2:c.*872G>A	NP_981932.1:n.*872G>A
NM_001318495.1:c.*872G>A	NP_001305424.1:n.*872G>A
NR_134655.1:n.2055G>A
NM_001164694.2:c.*972G>A	NP_001158166.1:n.*972G>A
NM_001164695.2:c.*1059G>A	NP_001158167.1:n.*1059G>A
NM_001318495.2:c.*872G>A	NP_001305424.1:n.*872G>A
NM_203395.3:c.*872G>A MANE Select	NP_981932.1:n.*872G>A
NR_134655.2:n.1935G>A