Canonical Allele Identifier: CA368365687
Gene: CYP3A5 HGNC NCBI
ZSCAN25 HGNC NCBI

Linked Data

dbSNP Id: rs1475746576
gnomAD v2: 7-99262888-C-T
gnomAD v4: 7-99665265-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99665265C>T , CM000669.2:g.99665265C>T GRCh38
NC_000007.13:g.99262888C>T , CM000669.1:g.99262888C>T GRCh37
NC_000007.12:g.99100824C>T NCBI36
NG_007938.1:g.19734G>A
NG_007938.2:g.19734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646887.1:c.*256G>A (CYP3A5) ENSP00000496704.1:n.*256G>A
ENST00000222982.8:c.571G>A (CYP3A5) MANE Select ENSP00000222982.4:p.Val191Met
ENST00000339843.6:c.*970G>A (CYP3A5) ENSP00000343074.2:n.*970G>A
ENST00000461920.5:n.1163G>A (CYP3A5)
ENST00000463364.5:n.890G>A (CYP3A5)
ENST00000466061.5:n.911G>A (CYP3A5)
ENST00000469887.5:n.1019G>A (CYP3A5)
ENST00000481825.5:n.1171G>A (CYP3A5)
NM_000777.4:c.571G>A (CYP3A5) NP_000768.1:p.Val191Met
NM_001291829.1:c.232G>A (CYP3A5) NP_001278758.1:p.Val78Met
NM_001291830.1:c.541G>A (CYP3A5) NP_001278759.1:p.Val181Met
NR_033807.2:n.1220G>A (CYP3A5)
XM_006715859.2:c.571G>A (CYP3A5) XP_006715922.1:p.Val191Met
XM_011515843.1:c.232G>A (CYP3A5) XP_011514145.1:p.Val78Met
XM_011515844.1:c.232G>A (CYP3A5) XP_011514146.1:p.Val78Met
XM_011515845.1:c.31G>A (CYP3A5) XP_011514147.1:p.Val11Met
XM_011515846.1:c.31G>A (CYP3A5) XP_011514148.1:p.Val11Met
XM_011515847.1:c.31G>A (CYP3A5) XP_011514149.1:p.Val11Met
XM_011515909.1:c.806-3830C>T (ZSCAN25) XP_011514211.1:n.806-3830C>T
XR_927402.1:n.1466+41085C>T (ZSCAN25)
NM_000777.5:c.571G>A (CYP3A5) MANE Select NP_000768.1:p.Val191Met
NM_001350984.1:c.806-3830C>T (ZSCAN25) NP_001337913.1:n.806-3830C>T
NM_001350985.1:c.806-3830C>T (ZSCAN25) NP_001337914.1:n.806-3830C>T
XM_011515909.2:c.806-3830C>T (ZSCAN25) XP_011514211.1:n.806-3830C>T
XR_927402.2:n.1465+41085C>T (ZSCAN25)
NM_001291829.2:c.232G>A (CYP3A5) NP_001278758.1:p.Val78Met
NM_001291830.2:c.541G>A (CYP3A5) NP_001278759.1:p.Val181Met
NM_001350984.2:c.806-3830C>T (ZSCAN25) NP_001337913.1:n.806-3830C>T
NM_001350985.2:c.806-3830C>T (ZSCAN25) NP_001337914.1:n.806-3830C>T
NR_033807.3:n.1190G>A (CYP3A5)