Canonical Allele Identifier: CA8573277
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs764864671
ExAC: 17:40336527 G / A
gnomAD v2: 17-40336527-G-A
gnomAD v3: 17-42184509-G-A
gnomAD v4: 17-42184509-G-A
MyVariant Identifiers: chr17:g.40336527G>A (hg19) chr17:g.42184509G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184509G>A , CM000679.2:g.42184509G>A GRCh38
NC_000017.10:g.40336527G>A , CM000679.1:g.40336527G>A GRCh37
NC_000017.9:g.37590053G>A NCBI36
NG_011448.1:g.5944C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.41C>T MANE Select ENSP00000293330.1:p.Thr14Met
NM_001524.1:c.41C>T MANE Select NP_001515.1:p.Thr14Met
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