Canonical Allele Identifier: CA368365618
Gene: CYP3A5 HGNC NCBI
ZSCAN25 HGNC NCBI

Linked Data

dbSNP Id: rs1335312029
gnomAD v2: 7-99262868-G-C
gnomAD v4: 7-99665245-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99665245G>C , CM000669.2:g.99665245G>C GRCh38
NC_000007.13:g.99262868G>C , CM000669.1:g.99262868G>C GRCh37
NC_000007.12:g.99100804G>C NCBI36
NG_007938.1:g.19754C>G
NG_007938.2:g.19754C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646887.1:c.*276C>G (CYP3A5) ENSP00000496704.1:n.*276C>G
ENST00000222982.8:c.591C>G (CYP3A5) MANE Select ENSP00000222982.4:p.Asn197Lys
ENST00000339843.6:c.*990C>G (CYP3A5) ENSP00000343074.2:n.*990C>G
ENST00000461920.5:n.1183C>G (CYP3A5)
ENST00000463364.5:n.910C>G (CYP3A5)
ENST00000466061.5:n.931C>G (CYP3A5)
ENST00000469887.5:n.1039C>G (CYP3A5)
ENST00000481825.5:n.1191C>G (CYP3A5)
NM_000777.4:c.591C>G (CYP3A5) NP_000768.1:p.Asn197Lys
NM_001291829.1:c.252C>G (CYP3A5) NP_001278758.1:p.Asn84Lys
NM_001291830.1:c.561C>G (CYP3A5) NP_001278759.1:p.Asn187Lys
NR_033807.2:n.1240C>G (CYP3A5)
XM_006715859.2:c.591C>G (CYP3A5) XP_006715922.1:p.Asn197Lys
XM_011515843.1:c.252C>G (CYP3A5) XP_011514145.1:p.Asn84Lys
XM_011515844.1:c.252C>G (CYP3A5) XP_011514146.1:p.Asn84Lys
XM_011515845.1:c.51C>G (CYP3A5) XP_011514147.1:p.Asn17Lys
XM_011515846.1:c.51C>G (CYP3A5) XP_011514148.1:p.Asn17Lys
XM_011515847.1:c.51C>G (CYP3A5) XP_011514149.1:p.Asn17Lys
XM_011515909.1:c.806-3850G>C (ZSCAN25) XP_011514211.1:n.806-3850G>C
XR_927402.1:n.1466+41065G>C (ZSCAN25)
NM_000777.5:c.591C>G (CYP3A5) MANE Select NP_000768.1:p.Asn197Lys
NM_001350984.1:c.806-3850G>C (ZSCAN25) NP_001337913.1:n.806-3850G>C
NM_001350985.1:c.806-3850G>C (ZSCAN25) NP_001337914.1:n.806-3850G>C
XM_011515909.2:c.806-3850G>C (ZSCAN25) XP_011514211.1:n.806-3850G>C
XR_927402.2:n.1465+41065G>C (ZSCAN25)
NM_001291829.2:c.252C>G (CYP3A5) NP_001278758.1:p.Asn84Lys
NM_001291830.2:c.561C>G (CYP3A5) NP_001278759.1:p.Asn187Lys
NM_001350984.2:c.806-3850G>C (ZSCAN25) NP_001337913.1:n.806-3850G>C
NM_001350985.2:c.806-3850G>C (ZSCAN25) NP_001337914.1:n.806-3850G>C
NR_033807.3:n.1210C>G (CYP3A5)