Canonical Allele Identifier: CA399562231
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184409-G-T
MyVariant Identifiers: chr17:g.40336427G>T (hg19) chr17:g.42184409G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184409G>T , CM000679.2:g.42184409G>T GRCh38
NC_000017.10:g.40336427G>T , CM000679.1:g.40336427G>T GRCh37
NC_000017.9:g.37589953G>T NCBI36
NG_011448.1:g.6044C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.141C>A MANE Select ENSP00000293330.1:p.Cys47Ter
NM_001524.1:c.141C>A MANE Select NP_001515.1:p.Cys47Ter
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