Canonical Allele Identifier: CA518650384
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134493567-T-C
MyVariant Identifiers: chrX:g.133627597T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493567T>C , CM000685.2:g.134493567T>C GRCh38
NC_000023.10:g.133627597T>C , CM000685.1:g.133627597T>C GRCh37
NC_000023.9:g.133455263T>C NCBI36
NG_012329.1:g.38423T>C
NG_012329.2:g.38423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.462T>C MANE Select ENSP00000298556.7:p.Asn154=
ENST00000298556.7:c.462T>C ENSP00000298556.7:p.Asn154=
ENST00000462974.5:n.620T>C
ENST00000475720.1:n.420T>C
NM_000194.2:c.462T>C NP_000185.1:p.Asn154=
XM_011531328.1:c.480T>C XP_011529630.1:p.Asn160=
NM_000194.3:c.462T>C MANE Select NP_000185.1:p.Asn154=
Search 100 bp 5'
Search 100 bp 3'