Canonical Allele Identifier: CA1425784638
Gene: ABCC5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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