Canonical Allele Identifier: CA399562222
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184405-G-C
MyVariant Identifiers: chr17:g.40336423G>C (hg19) chr17:g.42184405G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184405G>C , CM000679.2:g.42184405G>C GRCh38
NC_000017.10:g.40336423G>C , CM000679.1:g.40336423G>C GRCh37
NC_000017.9:g.37589949G>C NCBI36
NG_011448.1:g.6048C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.145C>G MANE Select ENSP00000293330.1:p.Leu49Val
NM_001524.1:c.145C>G MANE Select NP_001515.1:p.Leu49Val
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