Canonical Allele Identifier: CA290717978
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs1025282338
gnomAD v2: 17-40336749-T-G
gnomAD v3: 17-42184731-T-G
gnomAD v4: 17-42184731-T-G
MyVariant Identifiers: chr17:g.40336749T>G (hg19) chr17:g.42184731T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184731T>G , CM000679.2:g.42184731T>G GRCh38
NC_000017.10:g.40336749T>G , CM000679.1:g.40336749T>G GRCh37
NC_000017.9:g.37590275T>G NCBI36
NG_011448.1:g.5722A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-203A>C MANE Select ENSP00000293330.1:n.22-203A>C
NM_001524.1:c.22-203A>C MANE Select NP_001515.1:n.22-203A>C
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