Canonical Allele Identifier: CA394890414

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16292013T>A (hg19) ; chr16:g.16198156T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198156T>A , CM000678.2:g.16198156T>A	GRCh38
NC_000016.9:g.16292013T>A , CM000678.1:g.16292013T>A	GRCh37
NC_000016.8:g.16199514T>A	NCBI36
NG_007558.2:g.30316A>T
NG_007558.3:g.30462A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1203A>T	ENSP00000507301.1:p.Arg401Ser
ENST00000622290.5:c.1203A>T	ENSP00000483331.2:p.Arg401Ser
ENST00000205557.12:c.1203A>T MANE Select	ENSP00000205557.7:p.Arg401Ser
ENST00000205557.11:c.1203A>T	ENSP00000205557.7:p.Arg401Ser
ENST00000456970.6:c.1203A>T	ENSP00000405002.2:p.Arg401Ser
ENST00000574094.5:n.1299A>T
ENST00000622290.4:c.1203A>T	ENSP00000483331.1:p.Arg401Ser
NM_001171.5:c.1203A>T	NP_001162.4:p.Arg401Ser
XM_011522479.1:c.1203A>T	XP_011520781.1:p.Arg401Ser
XM_011522480.1:c.861A>T	XP_011520782.1:p.Arg287Ser
XM_011522481.1:c.861A>T	XP_011520783.1:p.Arg287Ser
XM_011522482.1:c.1203A>T	XP_011520784.1:p.Arg401Ser
XR_932836.1:n.1438A>T
XR_932837.1:n.1439A>T
XR_932838.1:n.1439A>T
NM_001351800.1:c.861A>T	NP_001338729.1:p.Arg287Ser
NR_147784.1:n.1240A>T
XM_011522479.2:c.1203A>T	XP_011520781.1:p.Arg401Ser
XM_011522481.3:c.861A>T	XP_011520783.1:p.Arg287Ser
XM_011522482.3:c.1203A>T	XP_011520784.1:p.Arg401Ser
XM_017023212.1:c.1203A>T	XP_016878701.1:p.Arg401Ser
XM_017023214.1:c.1203A>T	XP_016878703.1:p.Arg401Ser
XM_024450261.1:c.1239A>T	XP_024306029.1:p.Arg413Ser
XR_932836.2:n.1384A>T
XR_932837.3:n.1384A>T
XR_932838.3:n.1384A>T
NM_001171.6:c.1203A>T MANE Select	NP_001162.5:p.Arg401Ser