Canonical Allele Identifier: CA341396103
Gene: HSD3B2 HGNC NCBI

Linked Data

gnomAD v4: 1-119421872-G-A
MyVariant Identifiers: chr1:g.119964495G>A (hg19) chr1:g.119421872G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119421872G>A , CM000663.2:g.119421872G>A GRCh38
NC_000001.10:g.119964495G>A , CM000663.1:g.119964495G>A GRCh37
NC_000001.9:g.119766018G>A NCBI36
NG_013349.1:g.11942G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.371G>A MANE Select ENSP00000358424.3:p.Ser124Asn
ENST00000369416.3:c.371G>A ENSP00000358424.3:p.Ser124Asn
ENST00000433745.5:c.371G>A ENSP00000388292.1:p.Ser124Asn
ENST00000448448.2:n.315G>A
ENST00000543831.5:c.371G>A ENSP00000445122.1:p.Ser124Asn
NM_000198.3:c.371G>A NP_000189.1:p.Ser124Asn
NM_001166120.1:c.371G>A NP_001159592.1:p.Ser124Asn
NM_000198.4:c.371G>A MANE Select NP_000189.1:p.Ser124Asn
NM_001166120.2:c.371G>A NP_001159592.1:p.Ser124Asn
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