Canonical Allele Identifier: CA414712066
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609276T>C (hg19) chrX:g.134475246T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475246T>C , CM000685.2:g.134475246T>C GRCh38
NC_000023.10:g.133609276T>C , CM000685.1:g.133609276T>C GRCh37
NC_000023.9:g.133436942T>C NCBI36
NG_012329.1:g.20102T>C
NG_012329.2:g.20102T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.200T>C MANE Select ENSP00000298556.7:p.Val67Ala
ENST00000298556.7:c.200T>C ENSP00000298556.7:p.Val67Ala
ENST00000462974.5:n.358T>C
ENST00000475720.1:n.158T>C
NM_000194.2:c.200T>C NP_000185.1:p.Val67Ala
XM_011531328.1:c.218T>C XP_011529630.1:p.Val73Ala
NM_000194.3:c.200T>C MANE Select NP_000185.1:p.Val67Ala
Search 100 bp 5'
Search 100 bp 3'