Canonical Allele Identifier: CA290717962

Gene: HCRT

Linked Data

• dbSNP Id: rs989094603
• gnomAD v4: 17-42184632-T-A
• MyVariant Identifiers: chr17:g.40336650T>A (hg19) ; chr17:g.42184632T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184632T>A , CM000679.2:g.42184632T>A	GRCh38
NC_000017.10:g.40336650T>A , CM000679.1:g.40336650T>A	GRCh37
NC_000017.9:g.37590176T>A	NCBI36
NG_011448.1:g.5821A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.22-104A>T MANE Select	ENSP00000293330.1:n.22-104A>T
NM_001524.1:c.22-104A>T MANE Select	NP_001515.1:n.22-104A>T