Canonical Allele Identifier: CA394881570

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256983A>C (hg19) ; chr16:g.16163126A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163126A>C , CM000678.2:g.16163126A>C	GRCh38
NC_000016.9:g.16256983A>C , CM000678.1:g.16256983A>C	GRCh37
NC_000016.8:g.16164484A>C	NCBI36
NG_007558.2:g.65346T>G
NG_007558.3:g.65492T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3373T>G	ENSP00000483331.2:p.Ser1125Ala
ENST00000205557.12:c.3373T>G MANE Select	ENSP00000205557.7:p.Ser1125Ala
ENST00000640696.1:c.321-1562T>G	ENSP00000492197.1:n.321-1562T>G
ENST00000205557.11:c.3373T>G	ENSP00000205557.7:p.Ser1125Ala
ENST00000456970.6:c.3132-1562T>G	ENSP00000405002.2:n.3132-1562T>G
ENST00000622290.4:c.*582T>G	ENSP00000483331.1:n.*582T>G
NM_001171.5:c.3373T>G	NP_001162.4:p.Ser1125Ala
XM_011522479.1:c.3340T>G	XP_011520781.1:p.Ser1114Ala
XM_011522480.1:c.3031T>G	XP_011520782.1:p.Ser1011Ala
XM_011522481.1:c.3031T>G	XP_011520783.1:p.Ser1011Ala
XR_932836.1:n.3608T>G
XR_932837.1:n.3543-1562T>G
XR_932838.1:n.3543-1562T>G
XR_933133.1:n.407+283A>C
XR_933134.1:n.754+283A>C
NM_001351800.1:c.3031T>G	NP_001338729.1:p.Ser1011Ala
NR_147784.1:n.3169-1562T>G
XM_011522479.2:c.3340T>G	XP_011520781.1:p.Ser1114Ala
XM_011522481.3:c.3031T>G	XP_011520783.1:p.Ser1011Ala
XM_017023212.1:c.3205T>G	XP_016878701.1:p.Ser1069Ala
XM_017023214.1:c.3307-1562T>G	XP_016878703.1:n.3307-1562T>G
XM_024450261.1:c.3409T>G	XP_024306029.1:p.Ser1137Ala
XR_932836.2:n.3554T>G
XR_932837.3:n.3488-1562T>G
XR_932838.3:n.3488-1562T>G
NM_001171.6:c.3373T>G MANE Select	NP_001162.5:p.Ser1125Ala