Canonical Allele Identifier: CA394883036

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259592G>T (hg19) ; chr16:g.16165735G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165735G>T , CM000678.2:g.16165735G>T	GRCh38
NC_000016.9:g.16259592G>T , CM000678.1:g.16259592G>T	GRCh37
NC_000016.8:g.16167093G>T	NCBI36
NG_007558.2:g.62737C>A
NG_007558.3:g.62883C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3194C>A	ENSP00000483331.2:p.Ser1065Tyr
ENST00000205557.12:c.3194C>A MANE Select	ENSP00000205557.7:p.Ser1065Tyr
ENST00000640696.1:c.209C>A	ENSP00000492197.1:p.Ser70Tyr
ENST00000205557.11:c.3194C>A	ENSP00000205557.7:p.Ser1065Tyr
ENST00000456970.6:c.3019C>A	ENSP00000405002.2:n.3019C>A
ENST00000622290.4:c.*403C>A	ENSP00000483331.1:n.*403C>A
NM_001171.5:c.3194C>A	NP_001162.4:p.Ser1065Tyr
XM_011522479.1:c.3161C>A	XP_011520781.1:p.Ser1054Tyr
XM_011522480.1:c.2852C>A	XP_011520782.1:p.Ser951Tyr
XM_011522481.1:c.2852C>A	XP_011520783.1:p.Ser951Tyr
XR_932836.1:n.3429C>A
XR_932837.1:n.3430C>A
XR_932838.1:n.3430C>A
NM_001351800.1:c.2852C>A	NP_001338729.1:p.Ser951Tyr
NR_147784.1:n.3056C>A
XM_011522479.2:c.3161C>A	XP_011520781.1:p.Ser1054Tyr
XM_011522481.3:c.2852C>A	XP_011520783.1:p.Ser951Tyr
XM_017023212.1:c.3026C>A	XP_016878701.1:p.Ser1009Tyr
XM_017023214.1:c.3194C>A	XP_016878703.1:p.Ser1065Tyr
XM_024450261.1:c.3230C>A	XP_024306029.1:p.Ser1077Tyr
XR_932836.2:n.3375C>A
XR_932837.3:n.3375C>A
XR_932838.3:n.3375C>A
NM_001171.6:c.3194C>A MANE Select	NP_001162.5:p.Ser1065Tyr