Canonical Allele Identifier: CA399562236
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184411-A-G
MyVariant Identifiers: chr17:g.40336429A>G (hg19) chr17:g.42184411A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184411A>G , CM000679.2:g.42184411A>G GRCh38
NC_000017.10:g.40336429A>G , CM000679.1:g.40336429A>G GRCh37
NC_000017.9:g.37589955A>G NCBI36
NG_011448.1:g.6042T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.139T>C MANE Select ENSP00000293330.1:p.Cys47Arg
NM_001524.1:c.139T>C MANE Select NP_001515.1:p.Cys47Arg
Search 100 bp 5'
Search 100 bp 3'