Canonical Allele Identifier: CA414520006
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490346T>G , CM000685.2:g.149490346T>G GRCh38
NC_000023.10:g.148571877T>G , CM000685.1:g.148571877T>G GRCh37
NC_000023.9:g.148379782T>G NCBI36
NG_011900.3:g.19989A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.974A>C MANE Select ENSP00000339801.6:p.Asn325Thr
ENST00000651111.1:c.341A>C ENSP00000498395.1:p.Asn114Thr
ENST00000340855.10:c.974A>C ENSP00000339801.6:p.Asn325Thr
ENST00000370441.8:c.974A>C ENSP00000359470.4:p.Asn325Thr
ENST00000422081.6:c.341A>C ENSP00000477056.1:p.Asn114Thr
ENST00000441880.1:n.114-3248A>C
ENST00000464251.5:c.900A>C ENSP00000428980.1:n.900A>C
ENST00000466323.5:c.*165A>C ENSP00000418264.1:n.*165A>C
ENST00000490775.5:n.759A>C
NM_000202.6:c.974A>C NP_000193.1:p.Asn325Thr
NM_001166550.2:c.704A>C NP_001160022.1:p.Asn235Thr
NM_006123.4:c.974A>C NP_006114.1:p.Asn325Thr
NR_104128.1:n.1321A>C
NM_000202.7:c.974A>C NP_000193.1:p.Asn325Thr
NM_001166550.3:c.704A>C NP_001160022.1:p.Asn235Thr
NM_000202.8:c.974A>C MANE Select NP_000193.1:p.Asn325Thr
NM_001166550.4:c.704A>C NP_001160022.1:p.Asn235Thr
NM_006123.5:c.974A>C NP_006114.1:p.Asn325Thr
NR_104128.2:n.1273A>C