Canonical Allele Identifier: CA1057203574

Gene: ABCC5

Linked Data

• dbSNP Id: rs1242806865
• gnomAD v3: 3-183960514-C-G
• gnomAD v4: 3-183960514-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183960514C>G , CM000665.2:g.183960514C>G	GRCh38
NC_000003.11:g.183678302C>G , CM000665.1:g.183678302C>G	GRCh37
NC_000003.10:g.185160996C>G	NCBI36
NG_047115.1:g.62497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334444.11:c.2380-679G>C MANE Select	ENSP00000333926.6:n.2380-679G>C
ENST00000265586.10:c.2380-679G>C	ENSP00000265586.6:n.2380-679G>C
ENST00000334444.10:c.2380-679G>C	ENSP00000333926.6:n.2380-679G>C
ENST00000437205.5:c.*1073-679G>C	ENSP00000403510.1:n.*1073-679G>C
NM_005688.2:c.2380-679G>C	NP_005679.2:n.2380-679G>C
XM_005247058.3:c.2380-679G>C	XP_005247115.1:n.2380-679G>C
XM_005247059.3:c.2380-679G>C	XP_005247116.1:n.2380-679G>C
XM_011512314.1:c.2380-679G>C	XP_011510616.1:n.2380-679G>C
XM_011512315.1:c.2380-679G>C	XP_011510617.1:n.2380-679G>C
XM_011512316.1:c.964-679G>C	XP_011510618.1:n.964-679G>C
NM_001320032.1:c.964-679G>C	NP_001306961.1:n.964-679G>C
NM_005688.3:c.2380-679G>C	NP_005679.2:n.2380-679G>C
XM_005247058.5:c.2380-679G>C	XP_005247115.1:n.2380-679G>C
XM_005247059.5:c.2380-679G>C	XP_005247116.1:n.2380-679G>C
XM_011512314.2:c.2380-679G>C	XP_011510616.1:n.2380-679G>C
XM_017005492.2:c.1846-679G>C	XP_016860981.1:n.1846-679G>C
XM_024453286.1:c.1846-679G>C	XP_024309054.1:n.1846-679G>C
NM_005688.4:c.2380-679G>C MANE Select	NP_005679.2:n.2380-679G>C
NM_001320032.2:c.964-679G>C	NP_001306961.1:n.964-679G>C