Canonical Allele Identifier: CA11389343
Gene: ABCC5 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.183920057T>C
GRCh37 chr3:g.183637845T>C
gnomAD v2:
3:183637845 T / C
gnomAD v3:
3:183920057 T / C
gnomAD v4:
chr3-183920057-T-C
Joint Max Group AF 0.65405261 (AFR)
Genomes Max Group AF 0.65405261 (AFR)
Exomes Max Group AF 0.273776 (NFE)
dbSNP:
562
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183920057T>C , CM000665.2:g.183920057T>C GRCh38
NC_000003.11:g.183637845T>C , CM000665.1:g.183637845T>C GRCh37
NC_000003.10:g.185120539T>C NCBI36
NG_047115.1:g.102954A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334444.11:c.*1243A>G MANE Select ENSP00000333926.6:n.*1243A>G
ENST00000265586.10:c.*1243A>G ENSP00000265586.6:n.*1243A>G
ENST00000334444.10:c.*1243A>G ENSP00000333926.6:n.*1243A>G
ENST00000437205.5:c.*4250A>G ENSP00000403510.1:n.*4250A>G
NM_005688.2:c.*1243A>G NP_005679.2:n.*1243A>G
XM_005247058.3:c.*1243A>G XP_005247115.1:n.*1243A>G
XM_005247059.3:c.*1243A>G XP_005247116.1:n.*1243A>G
XM_011512314.1:c.*1243A>G XP_011510616.1:n.*1243A>G
XM_011512316.1:c.*1243A>G XP_011510618.1:n.*1243A>G
NM_001320032.1:c.*1243A>G NP_001306961.1:n.*1243A>G
NM_005688.3:c.*1243A>G NP_005679.2:n.*1243A>G
XM_005247058.5:c.*1243A>G XP_005247115.1:n.*1243A>G
XM_005247059.5:c.*1243A>G XP_005247116.1:n.*1243A>G
XM_011512314.2:c.*1243A>G XP_011510616.1:n.*1243A>G
XM_017005492.2:c.*1243A>G XP_016860981.1:n.*1243A>G
XM_024453286.1:c.*1243A>G XP_024309054.1:n.*1243A>G
NM_005688.4:c.*1243A>G MANE Select NP_005679.2:n.*1243A>G
NM_001320032.2:c.*1243A>G NP_001306961.1:n.*1243A>G
Search 100 bp 5'
Search 100 bp 3'