Canonical Allele Identifier: CA290717931
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs553140419
gnomAD v2: 17-40336523-T-C
gnomAD v3: 17-42184505-T-C
gnomAD v4: 17-42184505-T-C
COSMIC: COSM4066525
MyVariant Identifiers: chr17:g.40336523T>C (hg19) chr17:g.42184505T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184505T>C , CM000679.2:g.42184505T>C GRCh38
NC_000017.10:g.40336523T>C , CM000679.1:g.40336523T>C GRCh37
NC_000017.9:g.37590049T>C NCBI36
NG_011448.1:g.5948A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.45A>G MANE Select ENSP00000293330.1:p.Leu15=
NM_001524.1:c.45A>G MANE Select NP_001515.1:p.Leu15=
Search 100 bp 5'
Search 100 bp 3'