Canonical Allele Identifier: CA150046471

Gene: IYD

Linked Data

• dbSNP Id: rs761441089
• gnomAD v2: 6-150720244-C-T
• gnomAD v3: 6-150399108-C-T
• gnomAD v4: 6-150399108-C-T
• MyVariant Identifiers: chr6:g.150720244C>T (hg19) ; chr6:g.150399108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150399108C>T , CM000668.2:g.150399108C>T	GRCh38
NC_000006.11:g.150720244C>T , CM000668.1:g.150720244C>T	GRCh37
NC_000006.10:g.150761937C>T	NCBI36
NG_016007.1:g.35217C>T
NG_016007.2:g.35217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*871C>T MANE Select	ENSP00000343763.4:n.*871C>T
ENST00000229447.9:c.*971C>T	ENSP00000229447.5:n.*971C>T
ENST00000344419.7:c.*871C>T	ENSP00000343763.3:n.*871C>T
NM_001164694.1:c.*971C>T	NP_001158166.1:n.*971C>T
NM_001164695.1:c.*1058C>T	NP_001158167.1:n.*1058C>T
NM_203395.2:c.*871C>T	NP_981932.1:n.*871C>T
NM_001318495.1:c.*871C>T	NP_001305424.1:n.*871C>T
NR_134655.1:n.2054C>T
NM_001164694.2:c.*971C>T	NP_001158166.1:n.*971C>T
NM_001164695.2:c.*1058C>T	NP_001158167.1:n.*1058C>T
NM_001318495.2:c.*871C>T	NP_001305424.1:n.*871C>T
NM_203395.3:c.*871C>T MANE Select	NP_981932.1:n.*871C>T
NR_134655.2:n.1934C>T