Canonical Allele Identifier: CA394884375

Gene: ABCC6

Linked Data

• dbSNP Id: rs757861271
• gnomAD v2: 16-16263553-G-T
• gnomAD v4: 16-16169696-G-T
• MyVariant Identifiers: chr16:g.16263553G>T (hg19) ; chr16:g.16169696G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169696G>T , CM000678.2:g.16169696G>T	GRCh38
NC_000016.9:g.16263553G>T , CM000678.1:g.16263553G>T	GRCh37
NC_000016.8:g.16171054G>T	NCBI36
NG_007558.2:g.58776C>A
NG_007558.3:g.58922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2945C>A	ENSP00000483331.2:p.Thr982Lys
ENST00000205557.12:c.2945C>A MANE Select	ENSP00000205557.7:p.Thr982Lys
ENST00000205557.11:c.2945C>A	ENSP00000205557.7:p.Thr982Lys
ENST00000456970.6:c.2770C>A	ENSP00000405002.2:n.2770C>A
ENST00000622290.4:c.*154C>A	ENSP00000483331.1:n.*154C>A
NM_001171.5:c.2945C>A	NP_001162.4:p.Thr982Lys
XM_011522479.1:c.2912C>A	XP_011520781.1:p.Thr971Lys
XM_011522480.1:c.2603C>A	XP_011520782.1:p.Thr868Lys
XM_011522481.1:c.2603C>A	XP_011520783.1:p.Thr868Lys
XR_932836.1:n.3180C>A
XR_932837.1:n.3181C>A
XR_932838.1:n.3181C>A
NM_001351800.1:c.2603C>A	NP_001338729.1:p.Thr868Lys
NR_147784.1:n.2807C>A
XM_011522479.2:c.2912C>A	XP_011520781.1:p.Thr971Lys
XM_011522481.3:c.2603C>A	XP_011520783.1:p.Thr868Lys
XM_017023212.1:c.2777C>A	XP_016878701.1:p.Thr926Lys
XM_017023214.1:c.2945C>A	XP_016878703.1:p.Thr982Lys
XM_024450261.1:c.2981C>A	XP_024306029.1:p.Thr994Lys
XR_932836.2:n.3126C>A
XR_932837.3:n.3126C>A
XR_932838.3:n.3126C>A
NM_001171.6:c.2945C>A MANE Select	NP_001162.5:p.Thr982Lys