Canonical Allele Identifier: CA394884931

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263661A>T (hg19) ; chr16:g.16169804A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169804A>T , CM000678.2:g.16169804A>T	GRCh38
NC_000016.9:g.16263661A>T , CM000678.1:g.16263661A>T	GRCh37
NC_000016.8:g.16171162A>T	NCBI36
NG_007558.2:g.58668T>A
NG_007558.3:g.58814T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2837T>A	ENSP00000483331.2:p.Leu946His
ENST00000205557.12:c.2837T>A MANE Select	ENSP00000205557.7:p.Leu946His
ENST00000205557.11:c.2837T>A	ENSP00000205557.7:p.Leu946His
ENST00000456970.6:c.2662T>A	ENSP00000405002.2:n.2662T>A
ENST00000622290.4:c.*46T>A	ENSP00000483331.1:n.*46T>A
NM_001171.5:c.2837T>A	NP_001162.4:p.Leu946His
XM_011522479.1:c.2804T>A	XP_011520781.1:p.Leu935His
XM_011522480.1:c.2495T>A	XP_011520782.1:p.Leu832His
XM_011522481.1:c.2495T>A	XP_011520783.1:p.Leu832His
XR_932836.1:n.3072T>A
XR_932837.1:n.3073T>A
XR_932838.1:n.3073T>A
NM_001351800.1:c.2495T>A	NP_001338729.1:p.Leu832His
NR_147784.1:n.2699T>A
XM_011522479.2:c.2804T>A	XP_011520781.1:p.Leu935His
XM_011522481.3:c.2495T>A	XP_011520783.1:p.Leu832His
XM_017023212.1:c.2669T>A	XP_016878701.1:p.Leu890His
XM_017023214.1:c.2837T>A	XP_016878703.1:p.Leu946His
XM_024450261.1:c.2873T>A	XP_024306029.1:p.Leu958His
XR_932836.2:n.3018T>A
XR_932837.3:n.3018T>A
XR_932838.3:n.3018T>A
NM_001171.6:c.2837T>A MANE Select	NP_001162.5:p.Leu946His