Canonical Allele Identifier: CA394881630

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16163153-C-A
• MyVariant Identifiers: chr16:g.16257010C>A (hg19) ; chr16:g.16163153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163153C>A , CM000678.2:g.16163153C>A	GRCh38
NC_000016.9:g.16257010C>A , CM000678.1:g.16257010C>A	GRCh37
NC_000016.8:g.16164511C>A	NCBI36
NG_007558.2:g.65319G>T
NG_007558.3:g.65465G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3346G>T	ENSP00000483331.2:p.Glu1116Ter
ENST00000205557.12:c.3346G>T MANE Select	ENSP00000205557.7:p.Glu1116Ter
ENST00000640696.1:c.321-1589G>T	ENSP00000492197.1:n.321-1589G>T
ENST00000205557.11:c.3346G>T	ENSP00000205557.7:p.Glu1116Ter
ENST00000456970.6:c.3132-1589G>T	ENSP00000405002.2:n.3132-1589G>T
ENST00000622290.4:c.*555G>T	ENSP00000483331.1:n.*555G>T
NM_001171.5:c.3346G>T	NP_001162.4:p.Glu1116Ter
XM_011522479.1:c.3313G>T	XP_011520781.1:p.Glu1105Ter
XM_011522480.1:c.3004G>T	XP_011520782.1:p.Glu1002Ter
XM_011522481.1:c.3004G>T	XP_011520783.1:p.Glu1002Ter
XR_932836.1:n.3581G>T
XR_932837.1:n.3543-1589G>T
XR_932838.1:n.3543-1589G>T
XR_933133.1:n.407+310C>A
XR_933134.1:n.754+310C>A
NM_001351800.1:c.3004G>T	NP_001338729.1:p.Glu1002Ter
NR_147784.1:n.3169-1589G>T
XM_011522479.2:c.3313G>T	XP_011520781.1:p.Glu1105Ter
XM_011522481.3:c.3004G>T	XP_011520783.1:p.Glu1002Ter
XM_017023212.1:c.3178G>T	XP_016878701.1:p.Glu1060Ter
XM_017023214.1:c.3307-1589G>T	XP_016878703.1:n.3307-1589G>T
XM_024450261.1:c.3382G>T	XP_024306029.1:p.Glu1128Ter
XR_932836.2:n.3527G>T
XR_932837.3:n.3488-1589G>T
XR_932838.3:n.3488-1589G>T
NM_001171.6:c.3346G>T MANE Select	NP_001162.5:p.Glu1116Ter