Canonical Allele Identifier: CA767787629
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1308383264
gnomAD v3: 2-31580557-G-T
gnomAD v4: 2-31580557-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580557G>T , CM000664.2:g.31580557G>T GRCh38
NC_000002.11:g.31805627G>T , CM000664.1:g.31805627G>T GRCh37
NC_000002.10:g.31659131G>T NCBI36
NG_008365.1:g.5415C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+63C>A MANE Select ENSP00000477587.1:n.281+63C>A
ENST00000622030.1:c.281+63C>A ENSP00000477587.1:n.281+63C>A
NM_000348.3:c.281+63C>A NP_000339.2:n.281+63C>A
XM_011533068.1:c.281+63C>A XP_011531370.1:n.281+63C>A
XM_011533070.1:c.27-46791C>A XP_011531372.1:n.27-46791C>A
XM_011533071.1:c.27-46791C>A XP_011531373.1:n.27-46791C>A
XM_011533072.1:c.27-46791C>A XP_011531374.1:n.27-46791C>A
XM_011533072.2:c.27-46791C>A XP_011531374.1:n.27-46791C>A
NM_000348.4:c.281+63C>A MANE Select NP_000339.2:n.281+63C>A