Canonical Allele Identifier: CA1095800247

Gene: IYD

Linked Data

• dbSNP Id: rs1778417711
• gnomAD v3: 6-150398726-T-G
• gnomAD v4: 6-150398726-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398726T>G , CM000668.2:g.150398726T>G	GRCh38
NC_000006.11:g.150719862T>G , CM000668.1:g.150719862T>G	GRCh37
NC_000006.10:g.150761555T>G	NCBI36
NG_016007.1:g.34835T>G
NG_016007.2:g.34835T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*489T>G MANE Select	ENSP00000343763.4:n.*489T>G
ENST00000229447.9:c.*589T>G	ENSP00000229447.5:n.*589T>G
ENST00000344419.7:c.*489T>G	ENSP00000343763.3:n.*489T>G
NM_001164694.1:c.*589T>G	NP_001158166.1:n.*589T>G
NM_001164695.1:c.*676T>G	NP_001158167.1:n.*676T>G
NM_203395.2:c.*489T>G	NP_981932.1:n.*489T>G
NM_001318495.1:c.*489T>G	NP_001305424.1:n.*489T>G
NR_134655.1:n.1672T>G
NM_001164694.2:c.*589T>G	NP_001158166.1:n.*589T>G
NM_001164695.2:c.*676T>G	NP_001158167.1:n.*676T>G
NM_001318495.2:c.*489T>G	NP_001305424.1:n.*489T>G
NM_203395.3:c.*489T>G MANE Select	NP_981932.1:n.*489T>G
NR_134655.2:n.1552T>G