Canonical Allele Identifier: CA519173927
Gene: IDS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.148564559G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483028G>T , CM000685.2:g.149483028G>T GRCh38
NC_000023.10:g.148564559G>T , CM000685.1:g.148564559G>T GRCh37
NC_000023.9:g.148372464G>T NCBI36
NG_011900.3:g.27307C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1371C>A MANE Select ENSP00000339801.6:p.Pro457=
ENST00000651111.1:c.738C>A ENSP00000498395.1:p.Pro246=
ENST00000340855.10:c.1371C>A ENSP00000339801.6:p.Pro457=
ENST00000422081.6:c.738C>A ENSP00000477056.1:p.Pro246=
NM_000202.6:c.1371C>A NP_000193.1:p.Pro457=
NM_001166550.2:c.1101C>A NP_001160022.1:p.Pro367=
NM_000202.7:c.1371C>A NP_000193.1:p.Pro457=
NM_001166550.3:c.1101C>A NP_001160022.1:p.Pro367=
NM_000202.8:c.1371C>A MANE Select NP_000193.1:p.Pro457=
NM_001166550.4:c.1101C>A NP_001160022.1:p.Pro367=