Canonical Allele Identifier: CA1242198299
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1401709686
gnomAD v4: 2-31531360-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531360G>T , CM000664.2:g.31531360G>T GRCh38
NC_000002.11:g.31756430G>T , CM000664.1:g.31756430G>T GRCh37
NC_000002.10:g.31609934G>T NCBI36
NG_008365.1:g.54612C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.547+11C>A MANE Select ENSP00000477587.1:n.547+11C>A
ENST00000622030.1:c.547+11C>A ENSP00000477587.1:n.547+11C>A
NM_000348.3:c.547+11C>A NP_000339.2:n.547+11C>A
XM_011533069.1:c.325+11C>A XP_011531371.1:n.325+11C>A
XM_011533070.1:c.292+11C>A XP_011531372.1:n.292+11C>A
XM_011533071.1:c.292+11C>A XP_011531373.1:n.292+11C>A
XM_011533072.1:c.292+11C>A XP_011531374.1:n.292+11C>A
XM_011533069.2:c.325+11C>A XP_011531371.1:n.325+11C>A
XM_011533072.2:c.292+11C>A XP_011531374.1:n.292+11C>A
NM_000348.4:c.547+11C>A MANE Select NP_000339.2:n.547+11C>A
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