Canonical Allele Identifier: CA2694909288
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490494G>T , CM000685.2:g.149490494G>T GRCh38
NC_000023.10:g.148572025G>T , CM000685.1:g.148572025G>T GRCh37
NC_000023.9:g.148379930G>T NCBI36
NG_011900.3:g.19841C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.880-54C>A MANE Select ENSP00000339801.6:n.880-54C>A
ENST00000651111.1:c.247-54C>A ENSP00000498395.1:n.247-54C>A
ENST00000340855.10:c.880-54C>A ENSP00000339801.6:n.880-54C>A
ENST00000370441.8:c.880-54C>A ENSP00000359470.4:n.880-54C>A
ENST00000422081.6:c.247-54C>A ENSP00000477056.1:n.247-54C>A
ENST00000441880.1:n.114-3396C>A
ENST00000464251.5:c.806-54C>A ENSP00000428980.1:n.806-54C>A
ENST00000466323.5:c.*71-54C>A ENSP00000418264.1:n.*71-54C>A
ENST00000490775.5:n.665-54C>A
NM_000202.6:c.880-54C>A NP_000193.1:n.880-54C>A
NM_001166550.2:c.610-54C>A NP_001160022.1:n.610-54C>A
NM_006123.4:c.880-54C>A NP_006114.1:n.880-54C>A
NR_104128.1:n.1227-54C>A
NM_000202.7:c.880-54C>A NP_000193.1:n.880-54C>A
NM_001166550.3:c.610-54C>A NP_001160022.1:n.610-54C>A
NM_000202.8:c.880-54C>A MANE Select NP_000193.1:n.880-54C>A
NM_001166550.4:c.610-54C>A NP_001160022.1:n.610-54C>A
NM_006123.5:c.880-54C>A NP_006114.1:n.880-54C>A
NR_104128.2:n.1179-54C>A