Canonical Allele Identifier: CA14345050
Gene: HP HGNC NCBI
TXNL4B HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.72054522C>G
GRCh37 chr16:g.72088421C>G
gnomAD v2:
16:72088421 C / G
gnomAD v3:
16:72054522 C / G
gnomAD v4:
chr16-72054522-C-G
Joint Max Group AF 0.12879084 (AFR)
Genomes Max Group AF 0.12806963 (AFR)
Exomes Max Group AF 0.12766811 (AFR)
dbSNP:
5470
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72054522C>G , CM000678.2:g.72054522C>G GRCh38
NC_000016.9:g.72088421C>G , CM000678.1:g.72088421C>G GRCh37
NC_000016.8:g.70645922C>G NCBI36
NG_012651.1:g.4914C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.-131C>G (HP) MANE Select ENSP00000348170.5:n.-131C>G
ENST00000562153.5:c.285-10165G>C (TXNL4B) ENSP00000454635.1:n.285-10165G>C
XM_017023377.2:c.285-10165G>C (TXNL4B) XP_016878866.1:n.285-10165G>C
NM_001318138.2:c.-131C>G (HP) NP_001305067.1:n.-131C>G
NM_005143.5:c.-131C>G (HP) MANE Select NP_005134.1:n.-131C>G
NM_001126102.3:c.-131C>G (HP) NP_001119574.1:n.-131C>G
Search 100 bp 5'
Search 100 bp 3'