Canonical Allele Identifier: CA11429960
Gene: ABCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1401999
gnomAD v2: 3-183678342-C-G
gnomAD v3: 3-183960554-C-G
gnomAD v4: 3-183960554-C-G
MyVariant Identifiers: chr3:g.183678342C>G (hg19) chr3:g.183960554C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183960554C>G , CM000665.2:g.183960554C>G GRCh38
NC_000003.11:g.183678342C>G , CM000665.1:g.183678342C>G GRCh37
NC_000003.10:g.185161036C>G NCBI36
NG_047115.1:g.62457G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000334444.11:c.2380-719G>C MANE Select ENSP00000333926.6:n.2380-719G>C
ENST00000265586.10:c.2380-719G>C ENSP00000265586.6:n.2380-719G>C
ENST00000334444.10:c.2380-719G>C ENSP00000333926.6:n.2380-719G>C
ENST00000437205.5:c.*1073-719G>C ENSP00000403510.1:n.*1073-719G>C
NM_005688.2:c.2380-719G>C NP_005679.2:n.2380-719G>C
XM_005247058.3:c.2380-719G>C XP_005247115.1:n.2380-719G>C
XM_005247059.3:c.2380-719G>C XP_005247116.1:n.2380-719G>C
XM_011512314.1:c.2380-719G>C XP_011510616.1:n.2380-719G>C
XM_011512315.1:c.2380-719G>C XP_011510617.1:n.2380-719G>C
XM_011512316.1:c.964-719G>C XP_011510618.1:n.964-719G>C
NM_001320032.1:c.964-719G>C NP_001306961.1:n.964-719G>C
NM_005688.3:c.2380-719G>C NP_005679.2:n.2380-719G>C
XM_005247058.5:c.2380-719G>C XP_005247115.1:n.2380-719G>C
XM_005247059.5:c.2380-719G>C XP_005247116.1:n.2380-719G>C
XM_011512314.2:c.2380-719G>C XP_011510616.1:n.2380-719G>C
XM_017005492.2:c.1846-719G>C XP_016860981.1:n.1846-719G>C
XM_024453286.1:c.1846-719G>C XP_024309054.1:n.1846-719G>C
NM_005688.4:c.2380-719G>C MANE Select NP_005679.2:n.2380-719G>C
NM_001320032.2:c.964-719G>C NP_001306961.1:n.964-719G>C
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