Canonical Allele Identifier: CA2576929449
Gene: SRD5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531312A>C , CM000664.2:g.31531312A>C GRCh38
NC_000002.11:g.31756382A>C , CM000664.1:g.31756382A>C GRCh37
NC_000002.10:g.31609886A>C NCBI36
NG_008365.1:g.54660T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.547+59T>G MANE Select ENSP00000477587.1:n.547+59T>G
ENST00000622030.1:c.547+59T>G ENSP00000477587.1:n.547+59T>G
NM_000348.3:c.547+59T>G NP_000339.2:n.547+59T>G
XM_011533069.1:c.325+59T>G XP_011531371.1:n.325+59T>G
XM_011533070.1:c.292+59T>G XP_011531372.1:n.292+59T>G
XM_011533071.1:c.292+59T>G XP_011531373.1:n.292+59T>G
XM_011533072.1:c.292+59T>G XP_011531374.1:n.292+59T>G
XM_011533069.2:c.325+59T>G XP_011531371.1:n.325+59T>G
XM_011533072.2:c.292+59T>G XP_011531374.1:n.292+59T>G
NM_000348.4:c.547+59T>G MANE Select NP_000339.2:n.547+59T>G
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