Canonical Allele Identifier: CA14738516
Gene: PTBP1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.797079A>C
GRCh37 chr19:g.797079A>C
gnomAD v2:
19:797079 A / C
gnomAD v3:
19:797079 A / C
gnomAD v4:
chr19-797079-A-C
Joint Max Group AF 0.60762963 (AFR)
Genomes Max Group AF 0.60786515 (AFR)
Exomes Max Group AF 0.56431496 (AFR)
dbSNP:
351974
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.797079A>C , CM000681.2:g.797079A>C GRCh38
NC_000019.9:g.797079A>C , CM000681.1:g.797079A>C GRCh37
NC_000019.8:g.748079A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356948.10:c.-419A>C ENSP00000349428.4:n.-419A>C
ENST00000635647.1:c.-419A>C ENSP00000489604.1:n.-419A>C
Search 100 bp 5'
Search 100 bp 3'