Canonical Allele Identifier: CA493798032

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159521-T-C
• MyVariant Identifiers: chr16:g.16253378T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159521T>C , CM000678.2:g.16159521T>C	GRCh38
NC_000016.9:g.16253378T>C , CM000678.1:g.16253378T>C	GRCh37
NC_000016.8:g.16160879T>C	NCBI36
NG_007558.2:g.68951A>G
NG_007558.3:g.69097A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3696A>G	ENSP00000483331.2:p.Ser1232=
ENST00000205557.12:c.3696A>G MANE Select	ENSP00000205557.7:p.Ser1232=
ENST00000640696.1:c.510A>G	ENSP00000492197.1:p.Ser170=
ENST00000205557.11:c.3696A>G	ENSP00000205557.7:p.Ser1232=
ENST00000456970.6:c.3321A>G	ENSP00000405002.2:n.3321A>G
ENST00000622290.4:c.*905A>G	ENSP00000483331.1:n.*905A>G
NM_001171.5:c.3696A>G	NP_001162.4:p.Ser1232=
XM_011522479.1:c.3663A>G	XP_011520781.1:p.Ser1221=
XM_011522480.1:c.3354A>G	XP_011520782.1:p.Ser1118=
XM_011522481.1:c.3354A>G	XP_011520783.1:p.Ser1118=
XR_932836.1:n.3931A>G
XR_932837.1:n.3732A>G
XR_932838.1:n.3732A>G
XR_933134.1:n.539-260T>C
NM_001351800.1:c.3354A>G	NP_001338729.1:p.Ser1118=
NR_147784.1:n.3358A>G
XM_011522479.2:c.3663A>G	XP_011520781.1:p.Ser1221=
XM_011522481.3:c.3354A>G	XP_011520783.1:p.Ser1118=
XM_017023212.1:c.3528A>G	XP_016878701.1:p.Ser1176=
XM_024450261.1:c.3732A>G	XP_024306029.1:p.Ser1244=
XR_932836.2:n.3877A>G
XR_932837.3:n.3677A>G
XR_932838.3:n.3677A>G
NM_001171.6:c.3696A>G MANE Select	NP_001162.5:p.Ser1232=