Canonical Allele Identifier: CA640484
Gene: PADI4 HGNC NCBI

Linked Data

dbSNP Id: rs758464538
gnomAD v2: 1-17662703-C-T
gnomAD v3: 1-17336208-C-T
gnomAD v4: 1-17336208-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17336208C>T , CM000663.2:g.17336208C>T GRCh38
NC_000001.10:g.17662703C>T , CM000663.1:g.17662703C>T GRCh37
NC_000001.9:g.17535290C>T NCBI36
NG_023261.2:g.33019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.390C>T MANE Select ENSP00000364597.4:p.Thr130=
NM_012387.2:c.390C>T NP_036519.2:p.Thr130=
XM_011541150.1:c.340+2199C>T XP_011539452.1:n.340+2199C>T
XM_011541151.1:c.390C>T XP_011539453.1:p.Thr130=
XM_011541152.1:c.-30C>T XP_011539454.1:n.-30C>T
XM_011541153.1:c.390C>T XP_011539455.1:p.Thr130=
XM_011541154.1:c.390C>T XP_011539456.1:p.Thr130=
XM_011541155.1:c.390C>T XP_011539457.1:p.Thr130=
XM_011541156.1:c.390C>T XP_011539458.1:p.Thr130=
XM_011541157.1:c.-323C>T XP_011539459.1:n.-323C>T
XM_011541154.2:c.390C>T XP_011539456.1:p.Thr130=
NM_012387.3:c.390C>T MANE Select NP_036519.2:p.Thr130=