Canonical Allele Identifier: CA10619665

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 350186
• ClinVar RCV Id: RCV000285802 ; RCV002488770
• dbSNP Id: rs886059748
• gnomAD v2: 4-980802-C-T
• gnomAD v3: 4-987014-C-T
• gnomAD v4: 4-987014-C-T
• MyVariant Identifiers: chr4:g.980802C>T (hg19) ; chr4:g.987014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987014C>T , CM000666.2:g.987014C>T	GRCh38
NC_000004.11:g.980802C>T , CM000666.1:g.980802C>T	GRCh37
NC_000004.10:g.970802C>T	NCBI36
NG_008103.1:g.5018C>T
NG_033042.1:g.11423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.-71C>T (IDUA)	ENSP00000247933.4:n.-71C>T
ENST00000247933.8:c.-71C>T (IDUA)	ENSP00000247933.4:n.-71C>T
ENST00000398520.6:c.576+4114G>A (SLC26A1)	ENSP00000381532.2:n.576+4114G>A
ENST00000622731.4:c.576+4114G>A (SLC26A1)	ENSP00000483506.1:n.576+4114G>A
NM_000203.4:c.-71C>T (IDUA)	NP_000194.2:n.-71C>T
NM_134425.2:c.576+4114G>A (SLC26A1)	NP_602297.1:n.576+4114G>A
NR_110313.1:n.18C>T (IDUA)
NM_134425.3:c.576+4114G>A (SLC26A1)	NP_602297.1:n.576+4114G>A
NM_134425.4:c.576+4114G>A (SLC26A1)	NP_602297.1:n.576+4114G>A