Canonical Allele Identifier: CA2658498778
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531526-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531526G>T , CM000664.2:g.31531526G>T GRCh38
NC_000002.11:g.31756596G>T , CM000664.1:g.31756596G>T GRCh37
NC_000002.10:g.31610100G>T NCBI36
NG_008365.1:g.54446C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.446-54C>A MANE Select ENSP00000477587.1:n.446-54C>A
ENST00000622030.1:c.446-54C>A ENSP00000477587.1:n.446-54C>A
NM_000348.3:c.446-54C>A NP_000339.2:n.446-54C>A
XM_011533069.1:c.224-54C>A XP_011531371.1:n.224-54C>A
XM_011533070.1:c.191-54C>A XP_011531372.1:n.191-54C>A
XM_011533071.1:c.191-54C>A XP_011531373.1:n.191-54C>A
XM_011533072.1:c.191-54C>A XP_011531374.1:n.191-54C>A
XM_011533069.2:c.224-54C>A XP_011531371.1:n.224-54C>A
XM_011533072.2:c.191-54C>A XP_011531374.1:n.191-54C>A
NM_000348.4:c.446-54C>A MANE Select NP_000339.2:n.446-54C>A