Canonical Allele Identifier: CA341398194

Gene: HSD3B2

Linked Data

• gnomAD v4: 1-119422243-G-T
• MyVariant Identifiers: chr1:g.119964866G>T (hg19) ; chr1:g.119422243G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119422243G>T , CM000663.2:g.119422243G>T	GRCh38
NC_000001.10:g.119964866G>T , CM000663.1:g.119964866G>T	GRCh37
NC_000001.9:g.119766389G>T	NCBI36
NG_013349.1:g.12313G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369416.4:c.742G>T MANE Select	ENSP00000358424.3:p.Val248Phe
ENST00000369416.3:c.742G>T	ENSP00000358424.3:p.Val248Phe
ENST00000543831.5:c.742G>T	ENSP00000445122.1:p.Val248Phe
NM_000198.3:c.742G>T	NP_000189.1:p.Val248Phe
NM_001166120.1:c.742G>T	NP_001159592.1:p.Val248Phe
NM_000198.4:c.742G>T MANE Select	NP_000189.1:p.Val248Phe
NM_001166120.2:c.742G>T	NP_001159592.1:p.Val248Phe