Canonical Allele Identifier: CA394885085

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169843-G-T
• MyVariant Identifiers: chr16:g.16263700G>T (hg19) ; chr16:g.16169843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169843G>T , CM000678.2:g.16169843G>T	GRCh38
NC_000016.9:g.16263700G>T , CM000678.1:g.16263700G>T	GRCh37
NC_000016.8:g.16171201G>T	NCBI36
NG_007558.2:g.58629C>A
NG_007558.3:g.58775C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2798C>A	ENSP00000483331.2:p.Thr933Lys
ENST00000205557.12:c.2798C>A MANE Select	ENSP00000205557.7:p.Thr933Lys
ENST00000205557.11:c.2798C>A	ENSP00000205557.7:p.Thr933Lys
ENST00000456970.6:c.2623C>A	ENSP00000405002.2:n.2623C>A
ENST00000622290.4:c.*7C>A	ENSP00000483331.1:n.*7C>A
NM_001171.5:c.2798C>A	NP_001162.4:p.Thr933Lys
XM_011522479.1:c.2765C>A	XP_011520781.1:p.Thr922Lys
XM_011522480.1:c.2456C>A	XP_011520782.1:p.Thr819Lys
XM_011522481.1:c.2456C>A	XP_011520783.1:p.Thr819Lys
XR_932836.1:n.3033C>A
XR_932837.1:n.3034C>A
XR_932838.1:n.3034C>A
NM_001351800.1:c.2456C>A	NP_001338729.1:p.Thr819Lys
NR_147784.1:n.2660C>A
XM_011522479.2:c.2765C>A	XP_011520781.1:p.Thr922Lys
XM_011522481.3:c.2456C>A	XP_011520783.1:p.Thr819Lys
XM_017023212.1:c.2630C>A	XP_016878701.1:p.Thr877Lys
XM_017023214.1:c.2798C>A	XP_016878703.1:p.Thr933Lys
XM_024450261.1:c.2834C>A	XP_024306029.1:p.Thr945Lys
XR_932836.2:n.2979C>A
XR_932837.3:n.2979C>A
XR_932838.3:n.2979C>A
NM_001171.6:c.2798C>A MANE Select	NP_001162.5:p.Thr933Lys