Canonical Allele Identifier: CA2579719120
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483274C>A , CM000685.2:g.149483274C>A GRCh38
NC_000023.10:g.148564805C>A , CM000685.1:g.148564805C>A GRCh37
NC_000023.9:g.148372710C>A NCBI36
NG_011900.3:g.27061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1181-56G>T MANE Select ENSP00000339801.6:n.1181-56G>T
ENST00000651111.1:c.548-56G>T ENSP00000498395.1:n.548-56G>T
ENST00000340855.10:c.1181-56G>T ENSP00000339801.6:n.1181-56G>T
ENST00000422081.6:c.548-56G>T ENSP00000477056.1:n.548-56G>T
ENST00000441880.1:n.288-56G>T
NM_000202.6:c.1181-56G>T NP_000193.1:n.1181-56G>T
NM_001166550.2:c.911-56G>T NP_001160022.1:n.911-56G>T
NM_000202.7:c.1181-56G>T NP_000193.1:n.1181-56G>T
NM_001166550.3:c.911-56G>T NP_001160022.1:n.911-56G>T
NM_000202.8:c.1181-56G>T MANE Select NP_000193.1:n.1181-56G>T
NM_001166550.4:c.911-56G>T NP_001160022.1:n.911-56G>T