Canonical Allele Identifier: CA394884701

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263610C>T (hg19) ; chr16:g.16169753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169753C>T , CM000678.2:g.16169753C>T	GRCh38
NC_000016.9:g.16263610C>T , CM000678.1:g.16263610C>T	GRCh37
NC_000016.8:g.16171111C>T	NCBI36
NG_007558.2:g.58719G>A
NG_007558.3:g.58865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2888G>A	ENSP00000483331.2:p.Cys963Tyr
ENST00000205557.12:c.2888G>A MANE Select	ENSP00000205557.7:p.Cys963Tyr
ENST00000205557.11:c.2888G>A	ENSP00000205557.7:p.Cys963Tyr
ENST00000456970.6:c.2713G>A	ENSP00000405002.2:n.2713G>A
ENST00000622290.4:c.*97G>A	ENSP00000483331.1:n.*97G>A
NM_001171.5:c.2888G>A	NP_001162.4:p.Cys963Tyr
XM_011522479.1:c.2855G>A	XP_011520781.1:p.Cys952Tyr
XM_011522480.1:c.2546G>A	XP_011520782.1:p.Cys849Tyr
XM_011522481.1:c.2546G>A	XP_011520783.1:p.Cys849Tyr
XR_932836.1:n.3123G>A
XR_932837.1:n.3124G>A
XR_932838.1:n.3124G>A
NM_001351800.1:c.2546G>A	NP_001338729.1:p.Cys849Tyr
NR_147784.1:n.2750G>A
XM_011522479.2:c.2855G>A	XP_011520781.1:p.Cys952Tyr
XM_011522481.3:c.2546G>A	XP_011520783.1:p.Cys849Tyr
XM_017023212.1:c.2720G>A	XP_016878701.1:p.Cys907Tyr
XM_017023214.1:c.2888G>A	XP_016878703.1:p.Cys963Tyr
XM_024450261.1:c.2924G>A	XP_024306029.1:p.Cys975Tyr
XR_932836.2:n.3069G>A
XR_932837.3:n.3069G>A
XR_932838.3:n.3069G>A
NM_001171.6:c.2888G>A MANE Select	NP_001162.5:p.Cys963Tyr