Canonical Allele Identifier: CA399562224
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs1598282482
gnomAD v3: 17-42184407-C-A
gnomAD v4: 17-42184407-C-A
MyVariant Identifiers: chr17:g.40336425C>A (hg19) chr17:g.42184407C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184407C>A , CM000679.2:g.42184407C>A GRCh38
NC_000017.10:g.40336425C>A , CM000679.1:g.40336425C>A GRCh37
NC_000017.9:g.37589951C>A NCBI36
NG_011448.1:g.6046G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.143G>T MANE Select ENSP00000293330.1:p.Arg48Leu
NM_001524.1:c.143G>T MANE Select NP_001515.1:p.Arg48Leu
Search 100 bp 5'
Search 100 bp 3'