Canonical Allele Identifier: CA30210978

Gene: HSD3B2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119421512C>T , CM000663.2:g.119421512C>T	GRCh38
NC_000001.10:g.119964135C>T , CM000663.1:g.119964135C>T	GRCh37
NC_000001.9:g.119765658C>T	NCBI36
NG_013349.1:g.11582C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000198.4:c.308-297C>T MANE Select	NP_000189.1:n.308-297C>T
ENST00000369416.4:c.308-297C>T MANE Select	ENSP00000358424.3:n.308-297C>T
NM_000198.3:c.308-297C>T	NP_000189.1:n.308-297C>T
NM_001166120.1:c.308-297C>T	NP_001159592.1:n.308-297C>T
NM_001166120.2:c.308-297C>T	NP_001159592.1:n.308-297C>T
ENST00000369416.3:c.308-297C>T	ENSP00000358424.3:n.308-297C>T
ENST00000433745.5:c.308-297C>T	ENSP00000388292.1:n.308-297C>T
ENST00000448448.2:n.252-297C>T
ENST00000543831.5:c.308-297C>T	ENSP00000445122.1:n.308-297C>T