Canonical Allele Identifier: CA438057758

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996120C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002332C>T , CM000666.2:g.1002332C>T	GRCh38
NC_000004.11:g.996120C>T , CM000666.1:g.996120C>T	GRCh37
NC_000004.10:g.986120C>T	NCBI36
NG_008103.1:g.20336C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1036C>T	ENSP00000247933.4:p.Leu346=
ENST00000514224.2:c.1036C>T MANE Select	ENSP00000425081.2:p.Leu346=
ENST00000652070.1:n.1092C>T
ENST00000247933.8:c.1036C>T	ENSP00000247933.4:p.Leu346=
ENST00000514224.1:c.640C>T	ENSP00000425081.1:p.Leu214=
ENST00000514698.5:n.1143C>T
NM_000203.4:c.1036C>T	NP_000194.2:p.Leu346=
NR_110313.1:n.1124C>T
XM_006713882.2:c.640C>T	XP_006713945.1:p.Leu214=
XM_011513459.1:c.1102C>T	XP_011511761.1:p.Leu368=
XM_011513460.1:c.895C>T	XP_011511762.1:p.Leu299=
XM_011513461.1:c.829C>T	XP_011511763.1:p.Leu277=
XM_011513462.1:c.748C>T	XP_011511764.1:p.Leu250=
XM_011513463.1:c.748C>T	XP_011511765.1:p.Leu250=
XR_924947.1:n.1105C>T
NM_000203.5:c.1036C>T MANE Select	NP_000194.2:p.Leu346=
NM_001363576.1:c.640C>T	NP_001350505.1:p.Leu214=
XM_011513461.2:c.829C>T	XP_011511763.1:p.Leu277=
XM_017008163.1:c.76C>T	XP_016863652.1:p.Leu26=