Canonical Allele Identifier: CA14724996
Gene: ANGPTL6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.10102478G>A
GRCh37 chr19:g.10213154G>A
gnomAD v2:
19:10213154 G / A
gnomAD v3:
19:10102478 G / A
gnomAD v4:
chr19-10102478-G-A
Joint Max Group AF 0.10284093 (NFE)
Genomes Max Group AF 0.1041002 (NFE)
Exomes Max Group AF 0.10251118 (NFE)
dbSNP:
8109578
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10102478G>A , CM000681.2:g.10102478G>A GRCh38
NC_000019.9:g.10213154G>A , CM000681.1:g.10213154G>A GRCh37
NC_000019.8:g.10074154G>A NCBI36
NG_051640.1:g.1256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253109.5:c.-11+90C>T MANE Select ENSP00000253109.3:n.-11+90C>T
ENST00000253109.4:c.-11+90C>T ENSP00000253109.3:n.-11+90C>T
ENST00000592641.5:c.-11+74C>T ENSP00000467930.1:n.-11+74C>T
NM_031917.2:c.-11+90C>T NP_114123.2:n.-11+90C>T
XM_005260091.2:c.233+74C>T XP_005260148.1:n.233+74C>T
XM_011528347.1:c.-11+90C>T XP_011526649.1:n.-11+90C>T
XM_011528348.1:c.191+74C>T XP_011526650.1:n.191+74C>T
XM_011528349.1:c.191+74C>T XP_011526651.1:n.191+74C>T
XM_011528350.1:c.-11+90C>T XP_011526652.1:n.-11+90C>T
NM_001321411.1:c.-11+74C>T NP_001308340.1:n.-11+74C>T
XM_005260091.4:c.233+74C>T XP_005260148.1:n.233+74C>T
XM_011528347.3:c.-11+90C>T XP_011526649.1:n.-11+90C>T
XM_011528348.3:c.191+74C>T XP_011526650.1:n.191+74C>T
XM_011528349.3:c.191+74C>T XP_011526651.1:n.191+74C>T
XM_011528350.3:c.-11+90C>T XP_011526652.1:n.-11+90C>T
XM_017027347.2:c.-11+90C>T XP_016882836.1:n.-11+90C>T
XR_002958369.1:n.424+90C>T
NM_001321411.2:c.-11+74C>T NP_001308340.1:n.-11+74C>T
NM_001387347.1:c.-11+90C>T NP_001374276.1:n.-11+90C>T
NM_001387348.1:c.-11+90C>T NP_001374277.1:n.-11+90C>T
NM_031917.3:c.-11+90C>T MANE Select NP_114123.2:n.-11+90C>T
Search 100 bp 5'
Search 100 bp 3'