Canonical Allele Identifier: CA1036043
Community Standard Title: NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
Gene: HSD3B2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422310T>C , CM000663.2:g.119422310T>C GRCh38
NC_000001.10:g.119964933T>C , CM000663.1:g.119964933T>C GRCh37
NC_000001.9:g.119766456T>C NCBI36
NG_013349.1:g.12380T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000198.4:c.809T>C MANE Select NP_000189.1:p.Ile270Thr
ENST00000369416.4:c.809T>C MANE Select ENSP00000358424.3:p.Ile270Thr
NM_000198.3:c.809T>C NP_000189.1:p.Ile270Thr
NM_001166120.1:c.809T>C NP_001159592.1:p.Ile270Thr
NM_001166120.2:c.809T>C NP_001159592.1:p.Ile270Thr
ENST00000369416.3:c.809T>C ENSP00000358424.3:p.Ile270Thr
ENST00000543831.5:c.809T>C ENSP00000445122.1:p.Ile270Thr
Search 100 bp 5'
Search 100 bp 3'