Canonical Allele Identifier: CA394875596

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248782A>C (hg19) ; chr16:g.16154925A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154925A>C , CM000678.2:g.16154925A>C	GRCh38
NC_000016.9:g.16248782A>C , CM000678.1:g.16248782A>C	GRCh37
NC_000016.8:g.16156283A>C	NCBI36
NG_007558.2:g.73547T>G
NG_007558.3:g.73693T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.852T>G
ENST00000622290.5:c.*161T>G	ENSP00000483331.2:n.*161T>G
ENST00000205557.12:c.3989T>G MANE Select	ENSP00000205557.7:p.Ile1330Ser
ENST00000640696.1:c.803T>G	ENSP00000492197.1:p.Ile268Ser
ENST00000205557.11:c.3989T>G	ENSP00000205557.7:p.Ile1330Ser
ENST00000456970.6:c.3614T>G	ENSP00000405002.2:n.3614T>G
ENST00000576204.5:n.852T>G
ENST00000622290.4:c.*1198T>G	ENSP00000483331.1:n.*1198T>G
NM_001171.5:c.3989T>G	NP_001162.4:p.Ile1330Ser
XM_011522479.1:c.3956T>G	XP_011520781.1:p.Ile1319Ser
XM_011522480.1:c.3647T>G	XP_011520782.1:p.Ile1216Ser
XM_011522481.1:c.3647T>G	XP_011520783.1:p.Ile1216Ser
XR_933134.1:n.539-4856A>C
NM_001351800.1:c.3647T>G	NP_001338729.1:p.Ile1216Ser
NR_147784.1:n.3651T>G
XM_011522479.2:c.3956T>G	XP_011520781.1:p.Ile1319Ser
XM_011522481.3:c.3647T>G	XP_011520783.1:p.Ile1216Ser
XM_017023212.1:c.3821T>G	XP_016878701.1:p.Ile1274Ser
XM_024450261.1:c.4025T>G	XP_024306029.1:p.Ile1342Ser
NM_001171.6:c.3989T>G MANE Select	NP_001162.5:p.Ile1330Ser