Canonical Allele Identifier: CA394875591

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154922-G-T
• MyVariant Identifiers: chr16:g.16248779G>T (hg19) ; chr16:g.16154922G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154922G>T , CM000678.2:g.16154922G>T	GRCh38
NC_000016.9:g.16248779G>T , CM000678.1:g.16248779G>T	GRCh37
NC_000016.8:g.16156280G>T	NCBI36
NG_007558.2:g.73550C>A
NG_007558.3:g.73696C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.855C>A
ENST00000622290.5:c.*164C>A	ENSP00000483331.2:n.*164C>A
ENST00000205557.12:c.3992C>A MANE Select	ENSP00000205557.7:p.Ala1331Asp
ENST00000640696.1:c.806C>A	ENSP00000492197.1:p.Ala269Asp
ENST00000205557.11:c.3992C>A	ENSP00000205557.7:p.Ala1331Asp
ENST00000456970.6:c.3617C>A	ENSP00000405002.2:n.3617C>A
ENST00000576204.5:n.855C>A
ENST00000622290.4:c.*1201C>A	ENSP00000483331.1:n.*1201C>A
NM_001171.5:c.3992C>A	NP_001162.4:p.Ala1331Asp
XM_011522479.1:c.3959C>A	XP_011520781.1:p.Ala1320Asp
XM_011522480.1:c.3650C>A	XP_011520782.1:p.Ala1217Asp
XM_011522481.1:c.3650C>A	XP_011520783.1:p.Ala1217Asp
XR_933134.1:n.539-4859G>T
NM_001351800.1:c.3650C>A	NP_001338729.1:p.Ala1217Asp
NR_147784.1:n.3654C>A
XM_011522479.2:c.3959C>A	XP_011520781.1:p.Ala1320Asp
XM_011522481.3:c.3650C>A	XP_011520783.1:p.Ala1217Asp
XM_017023212.1:c.3824C>A	XP_016878701.1:p.Ala1275Asp
XM_024450261.1:c.4028C>A	XP_024306029.1:p.Ala1343Asp
NM_001171.6:c.3992C>A MANE Select	NP_001162.5:p.Ala1331Asp