Canonical Allele Identifier: CA640417
Gene: PADI4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17334004G>T
GRCh37 chr1:g.17660499G>T
Revel Score:
ENST00000375453 0.252
ENST00000358829 0.252
ENST00000375448 (MANE Select) 0.252
gnomAD v2:
1:17660499 G / T
gnomAD v3:
1:17334004 G / T
gnomAD v4:
chr1-17334004-G-T
Joint Max Group AF 0.00002553 (AFR)
Genomes Max Group AF 0.00002265 (AMR)
Exomes Max Group AF 0.00004093 (AFR)
dbSNP:
874881
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17334004G>T , CM000663.2:g.17334004G>T GRCh38
NC_000001.10:g.17660499G>T , CM000663.1:g.17660499G>T GRCh37
NC_000001.9:g.17533086G>T NCBI36
NG_023261.2:g.30815G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.335G>T MANE Select ENSP00000364597.4:p.Gly112Val
ENST00000375453.5:c.335G>T ENSP00000364602.1:p.Gly112Val
NM_012387.2:c.335G>T NP_036519.2:p.Gly112Val
XM_011541150.1:c.335G>T XP_011539452.1:p.Gly112Val
XM_011541151.1:c.335G>T XP_011539453.1:p.Gly112Val
XM_011541152.1:c.-85G>T XP_011539454.1:n.-85G>T
XM_011541153.1:c.335G>T XP_011539455.1:p.Gly112Val
XM_011541154.1:c.335G>T XP_011539456.1:p.Gly112Val
XM_011541155.1:c.335G>T XP_011539457.1:p.Gly112Val
XM_011541156.1:c.335G>T XP_011539458.1:p.Gly112Val
XM_011541157.1:c.-378G>T XP_011539459.1:n.-378G>T
XM_011541154.2:c.335G>T XP_011539456.1:p.Gly112Val
NM_012387.3:c.335G>T MANE Select NP_036519.2:p.Gly112Val
Search 100 bp 5'
Search 100 bp 3'