Canonical Allele Identifier: CA414522144
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498115A>T , CM000685.2:g.149498115A>T GRCh38
NC_000023.10:g.148579646A>T , CM000685.1:g.148579646A>T GRCh37
NC_000023.9:g.148387551A>T NCBI36
NG_011900.3:g.12220T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.700T>A MANE Select ENSP00000339801.6:p.Tyr234Asn
ENST00000651111.1:c.67T>A ENSP00000498395.1:p.Tyr23Asn
ENST00000340855.10:c.700T>A ENSP00000339801.6:p.Tyr234Asn
ENST00000370441.8:c.700T>A ENSP00000359470.4:p.Tyr234Asn
ENST00000422081.6:c.67T>A ENSP00000477056.1:p.Tyr23Asn
ENST00000441880.1:n.114-11017T>A
ENST00000464251.5:c.626T>A ENSP00000428980.1:n.626T>A
ENST00000466019.1:n.152T>A
ENST00000466323.5:c.700T>A ENSP00000418264.1:p.Tyr234Asn
ENST00000490775.5:n.485T>A
NM_000202.6:c.700T>A NP_000193.1:p.Tyr234Asn
NM_001166550.2:c.430T>A NP_001160022.1:p.Tyr144Asn
NM_006123.4:c.700T>A NP_006114.1:p.Tyr234Asn
NR_104128.1:n.917T>A
NM_000202.7:c.700T>A NP_000193.1:p.Tyr234Asn
NM_001166550.3:c.430T>A NP_001160022.1:p.Tyr144Asn
NM_000202.8:c.700T>A MANE Select NP_000193.1:p.Tyr234Asn
NM_001166550.4:c.430T>A NP_001160022.1:p.Tyr144Asn
NM_006123.5:c.700T>A NP_006114.1:p.Tyr234Asn
NR_104128.2:n.869T>A