Canonical Allele Identifier: CA394883591

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150212-G-A
• MyVariant Identifiers: chr16:g.16244069G>A (hg19) ; chr16:g.16150212G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150212G>A , CM000678.2:g.16150212G>A	GRCh38
NC_000016.9:g.16244069G>A , CM000678.1:g.16244069G>A	GRCh37
NC_000016.8:g.16151570G>A	NCBI36
NG_007558.2:g.78260C>T
NG_007558.3:g.78406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*605C>T	ENSP00000483331.2:n.*605C>T
ENST00000205557.12:c.4433C>T MANE Select	ENSP00000205557.7:p.Ala1478Val
ENST00000640696.1:c.1247C>T	ENSP00000492197.1:p.Ala416Val
ENST00000205557.11:c.4433C>T	ENSP00000205557.7:p.Ala1478Val
ENST00000456970.6:c.4058C>T	ENSP00000405002.2:n.4058C>T
ENST00000576204.5:n.1296C>T
ENST00000622290.4:c.*1642C>T	ENSP00000483331.1:n.*1642C>T
NM_001171.5:c.4433C>T	NP_001162.4:p.Ala1478Val
XM_011522479.1:c.4400C>T	XP_011520781.1:p.Ala1467Val
XM_011522480.1:c.4091C>T	XP_011520782.1:p.Ala1364Val
XM_011522481.1:c.4091C>T	XP_011520783.1:p.Ala1364Val
XR_933134.1:n.538+5922G>A
NM_001351800.1:c.4091C>T	NP_001338729.1:p.Ala1364Val
NR_147784.1:n.4095C>T
XM_011522479.2:c.4400C>T	XP_011520781.1:p.Ala1467Val
XM_011522481.3:c.4091C>T	XP_011520783.1:p.Ala1364Val
XM_017023212.1:c.4265C>T	XP_016878701.1:p.Ala1422Val
XM_024450261.1:c.4469C>T	XP_024306029.1:p.Ala1490Val
NM_001171.6:c.4433C>T MANE Select	NP_001162.5:p.Ala1478Val