Canonical Allele Identifier: CA368362640
Community Standard Title: NM_000777.5(CYP3A5):c.1193C>G (p.Thr398Ser)
Gene: CYP3A5 HGNC NCBI
ZSCAN25 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99652613G>C , CM000669.2:g.99652613G>C GRCh38
NC_000007.13:g.99250236G>C , CM000669.1:g.99250236G>C GRCh37
NC_000007.12:g.99088172G>C NCBI36
NG_007938.1:g.32386C>G
NG_007938.2:g.32386C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000777.5:c.1193C>G (CYP3A5) MANE Select NP_000768.1:p.Thr398Ser
ENST00000222982.8:c.1193C>G (CYP3A5) MANE Select ENSP00000222982.4:p.Thr398Ser
NM_000777.4:c.1193C>G (CYP3A5) NP_000768.1:p.Thr398Ser
NM_001291829.1:c.854C>G (CYP3A5) NP_001278758.1:p.Thr285Ser
NM_001291829.2:c.854C>G (CYP3A5) NP_001278758.1:p.Thr285Ser
NM_001291830.1:c.1163C>G (CYP3A5) NP_001278759.1:p.Thr388Ser
NM_001291830.2:c.1163C>G (CYP3A5) NP_001278759.1:p.Thr388Ser
NM_001350984.1:c.806-16482G>C (ZSCAN25) NP_001337913.1:n.806-16482G>C
NM_001350984.2:c.806-16482G>C (ZSCAN25) NP_001337913.1:n.806-16482G>C
NM_001350985.1:c.806-16482G>C (ZSCAN25) NP_001337914.1:n.806-16482G>C
NM_001350985.2:c.806-16482G>C (ZSCAN25) NP_001337914.1:n.806-16482G>C
NR_033807.2:n.2927C>G (CYP3A5)
NR_033807.3:n.2897C>G (CYP3A5)
ENST00000339843.6:c.*2677C>G (CYP3A5) ENSP00000343074.2:n.*2677C>G
ENST00000461920.5:n.1785C>G (CYP3A5)
ENST00000469887.5:n.2726C>G (CYP3A5)
ENST00000488187.1:n.271C>G (CYP3A5)
ENST00000646887.1:c.*878C>G (CYP3A5) ENSP00000496704.1:n.*878C>G
XM_011515843.1:c.854C>G (CYP3A5) XP_011514145.1:p.Thr285Ser
XM_011515844.1:c.854C>G (CYP3A5) XP_011514146.1:p.Thr285Ser
XM_011515845.1:c.653C>G (CYP3A5) XP_011514147.1:p.Thr218Ser
XM_011515846.1:c.653C>G (CYP3A5) XP_011514148.1:p.Thr218Ser
XM_011515847.1:c.653C>G (CYP3A5) XP_011514149.1:p.Thr218Ser
XM_011515909.1:c.806-16482G>C (ZSCAN25) XP_011514211.1:n.806-16482G>C
XM_011515909.2:c.806-16482G>C (ZSCAN25) XP_011514211.1:n.806-16482G>C
XR_927402.1:n.1466+28433G>C (ZSCAN25)
XR_927402.2:n.1465+28433G>C (ZSCAN25)