Canonical Allele Identifier: CA2459737468
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs2077622143
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475379T>C , CM000685.2:g.134475379T>C GRCh38
NC_000023.10:g.133609409T>C , CM000685.1:g.133609409T>C GRCh37
NC_000023.9:g.133437075T>C NCBI36
NG_012329.1:g.20235T>C
NG_012329.2:g.20235T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.318+15T>C MANE Select ENSP00000298556.7:n.318+15T>C
ENST00000298556.7:c.318+15T>C ENSP00000298556.7:n.318+15T>C
ENST00000462974.5:n.476+15T>C
ENST00000475720.1:n.276+15T>C
NM_000194.2:c.318+15T>C NP_000185.1:n.318+15T>C
XM_011531328.1:c.336+15T>C XP_011529630.1:n.336+15T>C
NM_000194.3:c.318+15T>C MANE Select NP_000185.1:n.318+15T>C
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