Canonical Allele Identifier: CA414714224
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133627550A>C (hg19) chrX:g.134493520A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493520A>C , CM000685.2:g.134493520A>C GRCh38
NC_000023.10:g.133627550A>C , CM000685.1:g.133627550A>C GRCh37
NC_000023.9:g.133455216A>C NCBI36
NG_012329.1:g.38376A>C
NG_012329.2:g.38376A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.415A>C MANE Select ENSP00000298556.7:p.Thr139Pro
ENST00000298556.7:c.415A>C ENSP00000298556.7:p.Thr139Pro
ENST00000462974.5:n.573A>C
ENST00000475720.1:n.373A>C
NM_000194.2:c.415A>C NP_000185.1:p.Thr139Pro
XM_011531328.1:c.433A>C XP_011529630.1:p.Thr145Pro
NM_000194.3:c.415A>C MANE Select NP_000185.1:p.Thr139Pro
Search 100 bp 5'
Search 100 bp 3'