Canonical Allele Identifier: CA1600035
Community Standard Title: NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro)
Gene: SRD5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580842A>G , CM000664.2:g.31580842A>G GRCh38
NC_000002.11:g.31805911A>G , CM000664.1:g.31805911A>G GRCh37
NC_000002.10:g.31659415A>G NCBI36
NG_008365.1:g.5130T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.59T>C MANE Select NP_000339.2:p.Leu20Pro
ENST00000622030.2:c.59T>C MANE Select ENSP00000477587.1:p.Leu20Pro
NM_000348.3:c.59T>C NP_000339.2:p.Leu20Pro
ENST00000622030.1:c.59T>C ENSP00000477587.1:p.Leu20Pro
XM_011533068.1:c.59T>C XP_011531370.1:p.Leu20Pro
XM_011533070.1:c.27-47076T>C XP_011531372.1:n.27-47076T>C
XM_011533071.1:c.27-47076T>C XP_011531373.1:n.27-47076T>C
XM_011533072.1:c.27-47076T>C XP_011531374.1:n.27-47076T>C
XM_011533072.2:c.27-47076T>C XP_011531374.1:n.27-47076T>C
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