Canonical Allele Identifier: CA10623152

Gene: IYD

Linked Data

• dbSNP Id: rs6909655
• gnomAD v2: 6-150720046-T-G
• gnomAD v3: 6-150398910-T-G
• gnomAD v4: 6-150398910-T-G
• MyVariant Identifiers: chr6:g.150720046T>G (hg19) ; chr6:g.150398910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398910T>G , CM000668.2:g.150398910T>G	GRCh38
NC_000006.11:g.150720046T>G , CM000668.1:g.150720046T>G	GRCh37
NC_000006.10:g.150761739T>G	NCBI36
NG_016007.1:g.35019T>G
NG_016007.2:g.35019T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*673T>G MANE Select	ENSP00000343763.4:n.*673T>G
ENST00000229447.9:c.*773T>G	ENSP00000229447.5:n.*773T>G
ENST00000344419.7:c.*673T>G	ENSP00000343763.3:n.*673T>G
NM_001164694.1:c.*773T>G	NP_001158166.1:n.*773T>G
NM_001164695.1:c.*860T>G	NP_001158167.1:n.*860T>G
NM_203395.2:c.*673T>G	NP_981932.1:n.*673T>G
NM_001318495.1:c.*673T>G	NP_001305424.1:n.*673T>G
NR_134655.1:n.1856T>G
NM_001164694.2:c.*773T>G	NP_001158166.1:n.*773T>G
NM_001164695.2:c.*860T>G	NP_001158167.1:n.*860T>G
NM_001318495.2:c.*673T>G	NP_001305424.1:n.*673T>G
NM_203395.3:c.*673T>G MANE Select	NP_981932.1:n.*673T>G
NR_134655.2:n.1736T>G