Canonical Allele Identifier: CA341398206
Gene: HSD3B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.119964873G>T (hg19) chr1:g.119422250G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422250G>T , CM000663.2:g.119422250G>T GRCh38
NC_000001.10:g.119964873G>T , CM000663.1:g.119964873G>T GRCh37
NC_000001.9:g.119766396G>T NCBI36
NG_013349.1:g.12320G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.749G>T MANE Select ENSP00000358424.3:p.Gly250Val
ENST00000369416.3:c.749G>T ENSP00000358424.3:p.Gly250Val
ENST00000543831.5:c.749G>T ENSP00000445122.1:p.Gly250Val
NM_000198.3:c.749G>T NP_000189.1:p.Gly250Val
NM_001166120.1:c.749G>T NP_001159592.1:p.Gly250Val
NM_000198.4:c.749G>T MANE Select NP_000189.1:p.Gly250Val
NM_001166120.2:c.749G>T NP_001159592.1:p.Gly250Val
Search 100 bp 5'
Search 100 bp 3'