Canonical Allele Identifier: CA500213995
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs1426704359
gnomAD v3: 17-42184406-G-T
gnomAD v4: 17-42184406-G-T
MyVariant Identifiers: chr17:g.40336424G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184406G>T , CM000679.2:g.42184406G>T GRCh38
NC_000017.10:g.40336424G>T , CM000679.1:g.40336424G>T GRCh37
NC_000017.9:g.37589950G>T NCBI36
NG_011448.1:g.6047C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.144C>A MANE Select ENSP00000293330.1:p.Arg48=
NM_001524.1:c.144C>A MANE Select NP_001515.1:p.Arg48=
Search 100 bp 5'
Search 100 bp 3'