Canonical Allele Identifier: CA394881675

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16257032G>C (hg19) ; chr16:g.16163175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163175G>C , CM000678.2:g.16163175G>C	GRCh38
NC_000016.9:g.16257032G>C , CM000678.1:g.16257032G>C	GRCh37
NC_000016.8:g.16164533G>C	NCBI36
NG_007558.2:g.65297C>G
NG_007558.3:g.65443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3324C>G	ENSP00000483331.2:p.Ser1108Arg
ENST00000205557.12:c.3324C>G MANE Select	ENSP00000205557.7:p.Ser1108Arg
ENST00000640696.1:c.321-1611C>G	ENSP00000492197.1:n.321-1611C>G
ENST00000205557.11:c.3324C>G	ENSP00000205557.7:p.Ser1108Arg
ENST00000456970.6:c.3132-1611C>G	ENSP00000405002.2:n.3132-1611C>G
ENST00000622290.4:c.*533C>G	ENSP00000483331.1:n.*533C>G
NM_001171.5:c.3324C>G	NP_001162.4:p.Ser1108Arg
XM_011522479.1:c.3291C>G	XP_011520781.1:p.Ser1097Arg
XM_011522480.1:c.2982C>G	XP_011520782.1:p.Ser994Arg
XM_011522481.1:c.2982C>G	XP_011520783.1:p.Ser994Arg
XR_932836.1:n.3559C>G
XR_932837.1:n.3543-1611C>G
XR_932838.1:n.3543-1611C>G
XR_933133.1:n.407+332G>C
XR_933134.1:n.754+332G>C
NM_001351800.1:c.2982C>G	NP_001338729.1:p.Ser994Arg
NR_147784.1:n.3169-1611C>G
XM_011522479.2:c.3291C>G	XP_011520781.1:p.Ser1097Arg
XM_011522481.3:c.2982C>G	XP_011520783.1:p.Ser994Arg
XM_017023212.1:c.3156C>G	XP_016878701.1:p.Ser1052Arg
XM_017023214.1:c.3307-1611C>G	XP_016878703.1:n.3307-1611C>G
XM_024450261.1:c.3360C>G	XP_024306029.1:p.Ser1120Arg
XR_932836.2:n.3505C>G
XR_932837.3:n.3488-1611C>G
XR_932838.3:n.3488-1611C>G
NM_001171.6:c.3324C>G MANE Select	NP_001162.5:p.Ser1108Arg