Canonical Allele Identifier: CA150046238

Gene: IYD

Linked Data

• dbSNP Id: rs1024186680
• gnomAD v2: 6-150720066-G-T
• gnomAD v3: 6-150398930-G-T
• gnomAD v4: 6-150398930-G-T
• MyVariant Identifiers: chr6:g.150720066G>T (hg19) ; chr6:g.150398930G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398930G>T , CM000668.2:g.150398930G>T	GRCh38
NC_000006.11:g.150720066G>T , CM000668.1:g.150720066G>T	GRCh37
NC_000006.10:g.150761759G>T	NCBI36
NG_016007.1:g.35039G>T
NG_016007.2:g.35039G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*693G>T MANE Select	ENSP00000343763.4:n.*693G>T
ENST00000229447.9:c.*793G>T	ENSP00000229447.5:n.*793G>T
ENST00000344419.7:c.*693G>T	ENSP00000343763.3:n.*693G>T
NM_001164694.1:c.*793G>T	NP_001158166.1:n.*793G>T
NM_001164695.1:c.*880G>T	NP_001158167.1:n.*880G>T
NM_203395.2:c.*693G>T	NP_981932.1:n.*693G>T
NM_001318495.1:c.*693G>T	NP_001305424.1:n.*693G>T
NR_134655.1:n.1876G>T
NM_001164694.2:c.*793G>T	NP_001158166.1:n.*793G>T
NM_001164695.2:c.*880G>T	NP_001158167.1:n.*880G>T
NM_001318495.2:c.*693G>T	NP_001305424.1:n.*693G>T
NM_203395.3:c.*693G>T MANE Select	NP_981932.1:n.*693G>T
NR_134655.2:n.1756G>T