Canonical Allele Identifier: CA368363881
Community Standard Title: NM_000777.5(CYP3A5):c.1009G>C (p.Ala337Pro)
Gene: CYP3A5 HGNC NCBI
ZSCAN25 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99660516C>G , CM000669.2:g.99660516C>G GRCh38
NC_000007.13:g.99258139C>G , CM000669.1:g.99258139C>G GRCh37
NC_000007.12:g.99096075C>G NCBI36
NG_007938.1:g.24483G>C
NG_007938.2:g.24483G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000777.5:c.1009G>C (CYP3A5) MANE Select NP_000768.1:p.Ala337Pro
ENST00000222982.8:c.1009G>C (CYP3A5) MANE Select ENSP00000222982.4:p.Ala337Pro
NM_000777.4:c.1009G>C (CYP3A5) NP_000768.1:p.Ala337Pro
NM_001291829.1:c.670G>C (CYP3A5) NP_001278758.1:p.Ala224Pro
NM_001291829.2:c.670G>C (CYP3A5) NP_001278758.1:p.Ala224Pro
NM_001291830.1:c.979G>C (CYP3A5) NP_001278759.1:p.Ala327Pro
NM_001291830.2:c.979G>C (CYP3A5) NP_001278759.1:p.Ala327Pro
NM_001350984.1:c.806-8579C>G (ZSCAN25) NP_001337913.1:n.806-8579C>G
NM_001350984.2:c.806-8579C>G (ZSCAN25) NP_001337913.1:n.806-8579C>G
NM_001350985.1:c.806-8579C>G (ZSCAN25) NP_001337914.1:n.806-8579C>G
NM_001350985.2:c.806-8579C>G (ZSCAN25) NP_001337914.1:n.806-8579C>G
NR_033807.2:n.2743G>C (CYP3A5)
NR_033807.3:n.2713G>C (CYP3A5)
ENST00000339843.6:c.*2493G>C (CYP3A5) ENSP00000343074.2:n.*2493G>C
ENST00000461920.5:n.1601G>C (CYP3A5)
ENST00000463364.5:n.1328G>C (CYP3A5)
ENST00000469887.5:n.2542G>C (CYP3A5)
ENST00000473347.1:n.911G>C (CYP3A5)
ENST00000481825.5:n.2694G>C (CYP3A5)
ENST00000488187.1:n.87G>C (CYP3A5)
ENST00000646887.1:c.*694G>C (CYP3A5) ENSP00000496704.1:n.*694G>C
XM_006715859.2:c.1009G>C (CYP3A5) XP_006715922.1:p.Ala337Pro
XM_011515843.1:c.670G>C (CYP3A5) XP_011514145.1:p.Ala224Pro
XM_011515844.1:c.670G>C (CYP3A5) XP_011514146.1:p.Ala224Pro
XM_011515845.1:c.469G>C (CYP3A5) XP_011514147.1:p.Ala157Pro
XM_011515846.1:c.469G>C (CYP3A5) XP_011514148.1:p.Ala157Pro
XM_011515847.1:c.469G>C (CYP3A5) XP_011514149.1:p.Ala157Pro
XM_011515909.1:c.806-8579C>G (ZSCAN25) XP_011514211.1:n.806-8579C>G
XM_011515909.2:c.806-8579C>G (ZSCAN25) XP_011514211.1:n.806-8579C>G
XR_927402.1:n.1466+36336C>G (ZSCAN25)
XR_927402.2:n.1465+36336C>G (ZSCAN25)