Canonical Allele Identifier: CA394890962

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16297316T>G (hg19) ; chr16:g.16203459T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16203459T>G , CM000678.2:g.16203459T>G	GRCh38
NC_000016.9:g.16297316T>G , CM000678.1:g.16297316T>G	GRCh37
NC_000016.8:g.16204817T>G	NCBI36
NG_007558.2:g.25013A>C
NG_007558.3:g.25159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.949A>C	ENSP00000507301.1:p.Ser317Arg
ENST00000622290.5:c.949A>C	ENSP00000483331.2:p.Ser317Arg
ENST00000205557.12:c.949A>C MANE Select	ENSP00000205557.7:p.Ser317Arg
ENST00000205557.11:c.949A>C	ENSP00000205557.7:p.Ser317Arg
ENST00000456970.6:c.949A>C	ENSP00000405002.2:p.Ser317Arg
ENST00000574094.5:n.1045A>C
ENST00000577103.1:c.*816A>C	ENSP00000459243.1:n.*816A>C
ENST00000622290.4:c.949A>C	ENSP00000483331.1:p.Ser317Arg
NM_001171.5:c.949A>C	NP_001162.4:p.Ser317Arg
XM_011522479.1:c.949A>C	XP_011520781.1:p.Ser317Arg
XM_011522480.1:c.607A>C	XP_011520782.1:p.Ser203Arg
XM_011522481.1:c.607A>C	XP_011520783.1:p.Ser203Arg
XM_011522482.1:c.949A>C	XP_011520784.1:p.Ser317Arg
XR_932836.1:n.1184A>C
XR_932837.1:n.1185A>C
XR_932838.1:n.1185A>C
NM_001351800.1:c.607A>C	NP_001338729.1:p.Ser203Arg
NR_147784.1:n.986A>C
XM_011522479.2:c.949A>C	XP_011520781.1:p.Ser317Arg
XM_011522481.3:c.607A>C	XP_011520783.1:p.Ser203Arg
XM_011522482.3:c.949A>C	XP_011520784.1:p.Ser317Arg
XM_017023212.1:c.949A>C	XP_016878701.1:p.Ser317Arg
XM_017023214.1:c.949A>C	XP_016878703.1:p.Ser317Arg
XM_024450261.1:c.985A>C	XP_024306029.1:p.Ser329Arg
XR_932836.2:n.1130A>C
XR_932837.3:n.1130A>C
XR_932838.3:n.1130A>C
NM_001171.6:c.949A>C MANE Select	NP_001162.5:p.Ser317Arg