Canonical Allele Identifier: CA493799615

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169848-C-T
• MyVariant Identifiers: chr16:g.16263705C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169848C>T , CM000678.2:g.16169848C>T	GRCh38
NC_000016.9:g.16263705C>T , CM000678.1:g.16263705C>T	GRCh37
NC_000016.8:g.16171206C>T	NCBI36
NG_007558.2:g.58624G>A
NG_007558.3:g.58770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2793G>A	ENSP00000483331.2:p.Lys931=
ENST00000205557.12:c.2793G>A MANE Select	ENSP00000205557.7:p.Lys931=
ENST00000205557.11:c.2793G>A	ENSP00000205557.7:p.Lys931=
ENST00000456970.6:c.2618G>A	ENSP00000405002.2:n.2618G>A
ENST00000622290.4:c.*2G>A	ENSP00000483331.1:n.*2G>A
NM_001171.5:c.2793G>A	NP_001162.4:p.Lys931=
XM_011522479.1:c.2760G>A	XP_011520781.1:p.Lys920=
XM_011522480.1:c.2451G>A	XP_011520782.1:p.Lys817=
XM_011522481.1:c.2451G>A	XP_011520783.1:p.Lys817=
XR_932836.1:n.3028G>A
XR_932837.1:n.3029G>A
XR_932838.1:n.3029G>A
NM_001351800.1:c.2451G>A	NP_001338729.1:p.Lys817=
NR_147784.1:n.2655G>A
XM_011522479.2:c.2760G>A	XP_011520781.1:p.Lys920=
XM_011522481.3:c.2451G>A	XP_011520783.1:p.Lys817=
XM_017023212.1:c.2625G>A	XP_016878701.1:p.Lys875=
XM_017023214.1:c.2793G>A	XP_016878703.1:p.Lys931=
XM_024450261.1:c.2829G>A	XP_024306029.1:p.Lys943=
XR_932836.2:n.2974G>A
XR_932837.3:n.2974G>A
XR_932838.3:n.2974G>A
NM_001171.6:c.2793G>A MANE Select	NP_001162.5:p.Lys931=