Canonical Allele Identifier: CA2637931101
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184632-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184632T>C , CM000679.2:g.42184632T>C GRCh38
NC_000017.10:g.40336650T>C , CM000679.1:g.40336650T>C GRCh37
NC_000017.9:g.37590176T>C NCBI36
NG_011448.1:g.5821A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-104A>G MANE Select ENSP00000293330.1:n.22-104A>G
NM_001524.1:c.22-104A>G MANE Select NP_001515.1:n.22-104A>G
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