Canonical Allele Identifier: CA355965284

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997409T>C (hg19) ; chr4:g.1003621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003621T>C , CM000666.2:g.1003621T>C	GRCh38
NC_000004.11:g.997409T>C , CM000666.1:g.997409T>C	GRCh37
NC_000004.10:g.987409T>C	NCBI36
NG_008103.1:g.21625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1723T>C	ENSP00000247933.4:p.Ser575Pro
ENST00000514224.2:c.1723T>C MANE Select	ENSP00000425081.2:p.Ser575Pro
ENST00000652070.1:n.1779T>C
ENST00000247933.8:c.1723T>C	ENSP00000247933.4:p.Ser575Pro
ENST00000514224.1:c.1327T>C	ENSP00000425081.1:p.Ser443Pro
ENST00000514417.1:n.115T>C
ENST00000514698.5:n.1830T>C
NM_000203.4:c.1723T>C	NP_000194.2:p.Ser575Pro
NR_110313.1:n.1811T>C
XM_006713882.2:c.1327T>C	XP_006713945.1:p.Ser443Pro
XM_011513459.1:c.1789T>C	XP_011511761.1:p.Ser597Pro
XM_011513460.1:c.1582T>C	XP_011511762.1:p.Ser528Pro
XM_011513461.1:c.1516T>C	XP_011511763.1:p.Ser506Pro
XM_011513462.1:c.1435T>C	XP_011511764.1:p.Ser479Pro
XM_011513463.1:c.1435T>C	XP_011511765.1:p.Ser479Pro
XR_924947.1:n.1979T>C
NM_000203.5:c.1723T>C MANE Select	NP_000194.2:p.Ser575Pro
NM_001363576.1:c.1327T>C	NP_001350505.1:p.Ser443Pro
XM_011513461.2:c.1516T>C	XP_011511763.1:p.Ser506Pro
XM_017008163.1:c.763T>C	XP_016863652.1:p.Ser255Pro