Canonical Allele Identifier: CA414521903

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148577952C>G (hg19) ; chrX:g.149496421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496421C>G , CM000685.2:g.149496421C>G	GRCh38
NC_000023.10:g.148577952C>G , CM000685.1:g.148577952C>G	GRCh37
NC_000023.9:g.148385857C>G	NCBI36
NG_011900.3:g.13914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.804G>C MANE Select	ENSP00000339801.6:p.Met268Ile
ENST00000651111.1:c.171G>C	ENSP00000498395.1:p.Met57Ile
ENST00000340855.10:c.804G>C	ENSP00000339801.6:p.Met268Ile
ENST00000370441.8:c.804G>C	ENSP00000359470.4:p.Met268Ile
ENST00000422081.6:c.171G>C	ENSP00000477056.1:p.Met57Ile
ENST00000441880.1:n.114-9323G>C
ENST00000464251.5:c.730G>C	ENSP00000428980.1:n.730G>C
ENST00000466019.1:n.256G>C
ENST00000466323.5:c.804G>C	ENSP00000418264.1:p.Met268Ile
ENST00000490775.5:n.589G>C
NM_000202.6:c.804G>C	NP_000193.1:p.Met268Ile
NM_001166550.2:c.534G>C	NP_001160022.1:p.Met178Ile
NM_006123.4:c.804G>C	NP_006114.1:p.Met268Ile
NR_104128.1:n.1021G>C
NM_000202.7:c.804G>C	NP_000193.1:p.Met268Ile
NM_001166550.3:c.534G>C	NP_001160022.1:p.Met178Ile
NM_000202.8:c.804G>C MANE Select	NP_000193.1:p.Met268Ile
NM_001166550.4:c.534G>C	NP_001160022.1:p.Met178Ile
NM_006123.5:c.804G>C	NP_006114.1:p.Met268Ile
NR_104128.2:n.973G>C