Canonical Allele Identifier: CA88813606

Gene: ABCC5

Linked Data

• dbSNP Id: rs960340209
• gnomAD v3: 3-183960515-G-A
• gnomAD v4: 3-183960515-G-A
• MyVariant Identifiers: chr3:g.183678303G>A (hg19) ; chr3:g.183960515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183960515G>A , CM000665.2:g.183960515G>A	GRCh38
NC_000003.11:g.183678303G>A , CM000665.1:g.183678303G>A	GRCh37
NC_000003.10:g.185160997G>A	NCBI36
NG_047115.1:g.62496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334444.11:c.2380-680C>T MANE Select	ENSP00000333926.6:n.2380-680C>T
ENST00000265586.10:c.2380-680C>T	ENSP00000265586.6:n.2380-680C>T
ENST00000334444.10:c.2380-680C>T	ENSP00000333926.6:n.2380-680C>T
ENST00000437205.5:c.*1073-680C>T	ENSP00000403510.1:n.*1073-680C>T
NM_005688.2:c.2380-680C>T	NP_005679.2:n.2380-680C>T
XM_005247058.3:c.2380-680C>T	XP_005247115.1:n.2380-680C>T
XM_005247059.3:c.2380-680C>T	XP_005247116.1:n.2380-680C>T
XM_011512314.1:c.2380-680C>T	XP_011510616.1:n.2380-680C>T
XM_011512315.1:c.2380-680C>T	XP_011510617.1:n.2380-680C>T
XM_011512316.1:c.964-680C>T	XP_011510618.1:n.964-680C>T
NM_001320032.1:c.964-680C>T	NP_001306961.1:n.964-680C>T
NM_005688.3:c.2380-680C>T	NP_005679.2:n.2380-680C>T
XM_005247058.5:c.2380-680C>T	XP_005247115.1:n.2380-680C>T
XM_005247059.5:c.2380-680C>T	XP_005247116.1:n.2380-680C>T
XM_011512314.2:c.2380-680C>T	XP_011510616.1:n.2380-680C>T
XM_017005492.2:c.1846-680C>T	XP_016860981.1:n.1846-680C>T
XM_024453286.1:c.1846-680C>T	XP_024309054.1:n.1846-680C>T
NM_005688.4:c.2380-680C>T MANE Select	NP_005679.2:n.2380-680C>T
NM_001320032.2:c.964-680C>T	NP_001306961.1:n.964-680C>T