Canonical Allele Identifier: CA394875935

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248841A>C (hg19) ; chr16:g.16154984A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154984A>C , CM000678.2:g.16154984A>C	GRCh38
NC_000016.9:g.16248841A>C , CM000678.1:g.16248841A>C	GRCh37
NC_000016.8:g.16156342A>C	NCBI36
NG_007558.2:g.73488T>G
NG_007558.3:g.73634T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.793T>G
ENST00000622290.5:c.*102T>G	ENSP00000483331.2:n.*102T>G
ENST00000205557.12:c.3930T>G MANE Select	ENSP00000205557.7:p.Ser1310Arg
ENST00000640696.1:c.744T>G	ENSP00000492197.1:p.Ser248Arg
ENST00000205557.11:c.3930T>G	ENSP00000205557.7:p.Ser1310Arg
ENST00000456970.6:c.3555T>G	ENSP00000405002.2:n.3555T>G
ENST00000576204.5:n.793T>G
ENST00000622290.4:c.*1139T>G	ENSP00000483331.1:n.*1139T>G
NM_001171.5:c.3930T>G	NP_001162.4:p.Ser1310Arg
XM_011522479.1:c.3897T>G	XP_011520781.1:p.Ser1299Arg
XM_011522480.1:c.3588T>G	XP_011520782.1:p.Ser1196Arg
XM_011522481.1:c.3588T>G	XP_011520783.1:p.Ser1196Arg
XR_932836.1:n.4228T>G
XR_932837.1:n.3966T>G
XR_932838.1:n.4029T>G
XR_933134.1:n.539-4797A>C
NM_001351800.1:c.3588T>G	NP_001338729.1:p.Ser1196Arg
NR_147784.1:n.3592T>G
XM_011522479.2:c.3897T>G	XP_011520781.1:p.Ser1299Arg
XM_011522481.3:c.3588T>G	XP_011520783.1:p.Ser1196Arg
XM_017023212.1:c.3762T>G	XP_016878701.1:p.Ser1254Arg
XM_024450261.1:c.3966T>G	XP_024306029.1:p.Ser1322Arg
XR_932836.2:n.4174T>G
XR_932837.3:n.3911T>G
XR_932838.3:n.3974T>G
NM_001171.6:c.3930T>G MANE Select	NP_001162.5:p.Ser1310Arg