Canonical Allele Identifier: CA2658498982
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31533460-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533460T>G , CM000664.2:g.31533460T>G GRCh38
NC_000002.11:g.31758530T>G , CM000664.1:g.31758530T>G GRCh37
NC_000002.10:g.31612034T>G NCBI36
NG_008365.1:g.52512A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.445+143A>C MANE Select ENSP00000477587.1:n.445+143A>C
ENST00000622030.1:c.445+143A>C ENSP00000477587.1:n.445+143A>C
NM_000348.3:c.445+143A>C NP_000339.2:n.445+143A>C
XM_011533068.1:c.445+143A>C XP_011531370.1:n.445+143A>C
XM_011533069.1:c.223+143A>C XP_011531371.1:n.223+143A>C
XM_011533070.1:c.190+143A>C XP_011531372.1:n.190+143A>C
XM_011533071.1:c.190+143A>C XP_011531373.1:n.190+143A>C
XM_011533072.1:c.190+143A>C XP_011531374.1:n.190+143A>C
XM_011533069.2:c.223+143A>C XP_011531371.1:n.223+143A>C
XM_011533072.2:c.190+143A>C XP_011531374.1:n.190+143A>C
NM_000348.4:c.445+143A>C MANE Select NP_000339.2:n.445+143A>C