Canonical Allele Identifier: CA394883034

Gene: ABCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3194C>T	ENSP00000483331.2:p.Ser1065Phe
ENST00000205557.12:c.3194C>T MANE Select	ENSP00000205557.7:p.Ser1065Phe
ENST00000640696.1:c.209C>T	ENSP00000492197.1:p.Ser70Phe
ENST00000205557.11:c.3194C>T	ENSP00000205557.7:p.Ser1065Phe
ENST00000456970.6:c.3019C>T	ENSP00000405002.2:n.3019C>T
ENST00000622290.4:c.*403C>T	ENSP00000483331.1:n.*403C>T
NM_001171.5:c.3194C>T	NP_001162.4:p.Ser1065Phe
XM_011522479.1:c.3161C>T	XP_011520781.1:p.Ser1054Phe
XM_011522480.1:c.2852C>T	XP_011520782.1:p.Ser951Phe
XM_011522481.1:c.2852C>T	XP_011520783.1:p.Ser951Phe
XR_932836.1:n.3429C>T
XR_932837.1:n.3430C>T
XR_932838.1:n.3430C>T
NM_001351800.1:c.2852C>T	NP_001338729.1:p.Ser951Phe
NR_147784.1:n.3056C>T
XM_011522479.2:c.3161C>T	XP_011520781.1:p.Ser1054Phe
XM_011522481.3:c.2852C>T	XP_011520783.1:p.Ser951Phe
XM_017023212.1:c.3026C>T	XP_016878701.1:p.Ser1009Phe
XM_017023214.1:c.3194C>T	XP_016878703.1:p.Ser1065Phe
XM_024450261.1:c.3230C>T	XP_024306029.1:p.Ser1077Phe
XR_932836.2:n.3375C>T
XR_932837.3:n.3375C>T
XR_932838.3:n.3375C>T
NM_001171.6:c.3194C>T MANE Select	NP_001162.5:p.Ser1065Phe