Canonical Allele Identifier: CA414712339
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609395G>C (hg19) chrX:g.134475365G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475365G>C , CM000685.2:g.134475365G>C GRCh38
NC_000023.10:g.133609395G>C , CM000685.1:g.133609395G>C GRCh37
NC_000023.9:g.133437061G>C NCBI36
NG_012329.1:g.20221G>C
NG_012329.2:g.20221G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.318+1G>C MANE Select ENSP00000298556.7:n.318+1G>C
ENST00000298556.7:c.318+1G>C ENSP00000298556.7:n.318+1G>C
ENST00000462974.5:n.476+1G>C
ENST00000475720.1:n.276+1G>C
NM_000194.2:c.318+1G>C NP_000185.1:n.318+1G>C
XM_011531328.1:c.336+1G>C XP_011529630.1:n.336+1G>C
NM_000194.3:c.318+1G>C MANE Select NP_000185.1:n.318+1G>C
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