Canonical Allele Identifier: CA399562229
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184408-G-T
MyVariant Identifiers: chr17:g.40336426G>T (hg19) chr17:g.42184408G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184408G>T , CM000679.2:g.42184408G>T GRCh38
NC_000017.10:g.40336426G>T , CM000679.1:g.40336426G>T GRCh37
NC_000017.9:g.37589952G>T NCBI36
NG_011448.1:g.6045C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.142C>A MANE Select ENSP00000293330.1:p.Arg48Ser
NM_001524.1:c.142C>A MANE Select NP_001515.1:p.Arg48Ser
Search 100 bp 5'
Search 100 bp 3'