Canonical Allele Identifier: CA500214000
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs1255243865
gnomAD v3: 17-42184412-A-G
gnomAD v4: 17-42184412-A-G
MyVariant Identifiers: chr17:g.40336430A>G (hg19) chr17:g.42184412A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184412A>G , CM000679.2:g.42184412A>G GRCh38
NC_000017.10:g.40336430A>G , CM000679.1:g.40336430A>G GRCh37
NC_000017.9:g.37589956A>G NCBI36
NG_011448.1:g.6041T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.138T>C MANE Select ENSP00000293330.1:p.Ser46=
NM_001524.1:c.138T>C MANE Select NP_001515.1:p.Ser46=
Search 100 bp 5'
Search 100 bp 3'