Canonical Allele Identifier: CA399562369

Gene: HCRT

Linked Data

• dbSNP Id: rs1395546637
• gnomAD v2: 17-40336492-G-C
• MyVariant Identifiers: chr17:g.40336492G>C (hg19) ; chr17:g.42184474G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184474G>C , CM000679.2:g.42184474G>C	GRCh38
NC_000017.10:g.40336492G>C , CM000679.1:g.40336492G>C	GRCh37
NC_000017.9:g.37590018G>C	NCBI36
NG_011448.1:g.5979C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.76C>G MANE Select	ENSP00000293330.1:p.Leu26Val
NM_001524.1:c.76C>G MANE Select	NP_001515.1:p.Leu26Val