Canonical Allele Identifier: CA399562464

Gene: HCRT

Linked Data

• MyVariant Identifiers: chr17:g.40336546C>G (hg19) ; chr17:g.42184528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184528C>G , CM000679.2:g.42184528C>G	GRCh38
NC_000017.10:g.40336546C>G , CM000679.1:g.40336546C>G	GRCh37
NC_000017.9:g.37590072C>G	NCBI36
NG_011448.1:g.5925G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.22G>C MANE Select	ENSP00000293330.1:p.Val8Leu
NM_001524.1:c.22G>C MANE Select	NP_001515.1:p.Val8Leu