Canonical Allele Identifier: CA290717963
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs575374719
gnomAD v4: 17-42184639-C-T
MyVariant Identifiers: chr17:g.40336657C>T (hg19) chr17:g.42184639C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184639C>T , CM000679.2:g.42184639C>T GRCh38
NC_000017.10:g.40336657C>T , CM000679.1:g.40336657C>T GRCh37
NC_000017.9:g.37590183C>T NCBI36
NG_011448.1:g.5814G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-111G>A MANE Select ENSP00000293330.1:n.22-111G>A
NM_001524.1:c.22-111G>A MANE Select NP_001515.1:n.22-111G>A
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