Canonical Allele Identifier: CA394884336

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169690-G-A
• MyVariant Identifiers: chr16:g.16263547G>A (hg19) ; chr16:g.16169690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169690G>A , CM000678.2:g.16169690G>A	GRCh38
NC_000016.9:g.16263547G>A , CM000678.1:g.16263547G>A	GRCh37
NC_000016.8:g.16171048G>A	NCBI36
NG_007558.2:g.58782C>T
NG_007558.3:g.58928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2951C>T	ENSP00000483331.2:p.Ala984Val
ENST00000205557.12:c.2951C>T MANE Select	ENSP00000205557.7:p.Ala984Val
ENST00000205557.11:c.2951C>T	ENSP00000205557.7:p.Ala984Val
ENST00000456970.6:c.2776C>T	ENSP00000405002.2:n.2776C>T
ENST00000622290.4:c.*160C>T	ENSP00000483331.1:n.*160C>T
NM_001171.5:c.2951C>T	NP_001162.4:p.Ala984Val
XM_011522479.1:c.2918C>T	XP_011520781.1:p.Ala973Val
XM_011522480.1:c.2609C>T	XP_011520782.1:p.Ala870Val
XM_011522481.1:c.2609C>T	XP_011520783.1:p.Ala870Val
XR_932836.1:n.3186C>T
XR_932837.1:n.3187C>T
XR_932838.1:n.3187C>T
NM_001351800.1:c.2609C>T	NP_001338729.1:p.Ala870Val
NR_147784.1:n.2813C>T
XM_011522479.2:c.2918C>T	XP_011520781.1:p.Ala973Val
XM_011522481.3:c.2609C>T	XP_011520783.1:p.Ala870Val
XM_017023212.1:c.2783C>T	XP_016878701.1:p.Ala928Val
XM_017023214.1:c.2951C>T	XP_016878703.1:p.Ala984Val
XM_024450261.1:c.2987C>T	XP_024306029.1:p.Ala996Val
XR_932836.2:n.3132C>T
XR_932837.3:n.3132C>T
XR_932838.3:n.3132C>T
NM_001171.6:c.2951C>T MANE Select	NP_001162.5:p.Ala984Val