Canonical Allele Identifier: CA399562234
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs2144152744
MyVariant Identifiers: chr17:g.40336428C>G (hg19) chr17:g.42184410C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184410C>G , CM000679.2:g.42184410C>G GRCh38
NC_000017.10:g.40336428C>G , CM000679.1:g.40336428C>G GRCh37
NC_000017.9:g.37589954C>G NCBI36
NG_011448.1:g.6043G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.140G>C MANE Select ENSP00000293330.1:p.Cys47Ser
NM_001524.1:c.140G>C MANE Select NP_001515.1:p.Cys47Ser
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