Canonical Allele Identifier: CA278645338

Gene: ABCC6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16178884C>T , CM000678.2:g.16178884C>T	GRCh38
NC_000016.9:g.16272741C>T , CM000678.1:g.16272741C>T	GRCh37
NC_000016.8:g.16180242C>T	NCBI36
NG_007558.2:g.49588G>A
NG_007558.3:g.49734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2329G>A	ENSP00000483331.2:p.Asp777Asn
ENST00000205557.12:c.2329G>A MANE Select	ENSP00000205557.7:p.Asp777Asn
ENST00000205557.11:c.2329G>A	ENSP00000205557.7:p.Asp777Asn
ENST00000456970.6:c.2329G>A	ENSP00000405002.2:p.Asp777Asn
ENST00000622290.4:c.2329G>A	ENSP00000483331.1:p.Asp777Asn
NM_001171.5:c.2329G>A	NP_001162.4:p.Asp777Asn
XM_011522479.1:c.2329G>A	XP_011520781.1:p.Asp777Asn
XM_011522480.1:c.1987G>A	XP_011520782.1:p.Asp663Asn
XM_011522481.1:c.1987G>A	XP_011520783.1:p.Asp663Asn
XM_011522482.1:c.2329G>A	XP_011520784.1:p.Asp777Asn
XR_932836.1:n.2564G>A
XR_932837.1:n.2565G>A
XR_932838.1:n.2565G>A
NM_001351800.1:c.1987G>A	NP_001338729.1:p.Asp663Asn
NR_147784.1:n.2366G>A
XM_011522479.2:c.2329G>A	XP_011520781.1:p.Asp777Asn
XM_011522481.3:c.1987G>A	XP_011520783.1:p.Asp663Asn
XM_011522482.3:c.2329G>A	XP_011520784.1:p.Asp777Asn
XM_017023212.1:c.2248-1258G>A	XP_016878701.1:n.2248-1258G>A
XM_017023214.1:c.2329G>A	XP_016878703.1:p.Asp777Asn
XM_024450261.1:c.2365G>A	XP_024306029.1:p.Asp789Asn
XR_932836.2:n.2510G>A
XR_932837.3:n.2510G>A
XR_932838.3:n.2510G>A
NM_001171.6:c.2329G>A MANE Select	NP_001162.5:p.Asp777Asn