Canonical Allele Identifier: CA394884902

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169792-G-T
• MyVariant Identifiers: chr16:g.16263649G>T (hg19) ; chr16:g.16169792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169792G>T , CM000678.2:g.16169792G>T	GRCh38
NC_000016.9:g.16263649G>T , CM000678.1:g.16263649G>T	GRCh37
NC_000016.8:g.16171150G>T	NCBI36
NG_007558.2:g.58680C>A
NG_007558.3:g.58826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2849C>A	ENSP00000483331.2:p.Ala950Glu
ENST00000205557.12:c.2849C>A MANE Select	ENSP00000205557.7:p.Ala950Glu
ENST00000205557.11:c.2849C>A	ENSP00000205557.7:p.Ala950Glu
ENST00000456970.6:c.2674C>A	ENSP00000405002.2:n.2674C>A
ENST00000622290.4:c.*58C>A	ENSP00000483331.1:n.*58C>A
NM_001171.5:c.2849C>A	NP_001162.4:p.Ala950Glu
XM_011522479.1:c.2816C>A	XP_011520781.1:p.Ala939Glu
XM_011522480.1:c.2507C>A	XP_011520782.1:p.Ala836Glu
XM_011522481.1:c.2507C>A	XP_011520783.1:p.Ala836Glu
XR_932836.1:n.3084C>A
XR_932837.1:n.3085C>A
XR_932838.1:n.3085C>A
NM_001351800.1:c.2507C>A	NP_001338729.1:p.Ala836Glu
NR_147784.1:n.2711C>A
XM_011522479.2:c.2816C>A	XP_011520781.1:p.Ala939Glu
XM_011522481.3:c.2507C>A	XP_011520783.1:p.Ala836Glu
XM_017023212.1:c.2681C>A	XP_016878701.1:p.Ala894Glu
XM_017023214.1:c.2849C>A	XP_016878703.1:p.Ala950Glu
XM_024450261.1:c.2885C>A	XP_024306029.1:p.Ala962Glu
XR_932836.2:n.3030C>A
XR_932837.3:n.3030C>A
XR_932838.3:n.3030C>A
NM_001171.6:c.2849C>A MANE Select	NP_001162.5:p.Ala950Glu