Canonical Allele Identifier: CA399562241
Gene: HCRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40336432A>G (hg19) chr17:g.42184414A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184414A>G , CM000679.2:g.42184414A>G GRCh38
NC_000017.10:g.40336432A>G , CM000679.1:g.40336432A>G GRCh37
NC_000017.9:g.37589958A>G NCBI36
NG_011448.1:g.6039T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.136T>C MANE Select ENSP00000293330.1:p.Ser46Pro
NM_001524.1:c.136T>C MANE Select NP_001515.1:p.Ser46Pro
Search 100 bp 5'
Search 100 bp 3'