Canonical Allele Identifier: CA394878785

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159536-C-A
• MyVariant Identifiers: chr16:g.16253393C>A (hg19) ; chr16:g.16159536C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159536C>A , CM000678.2:g.16159536C>A	GRCh38
NC_000016.9:g.16253393C>A , CM000678.1:g.16253393C>A	GRCh37
NC_000016.8:g.16160894C>A	NCBI36
NG_007558.2:g.68936G>T
NG_007558.3:g.69082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3681G>T	ENSP00000483331.2:p.Glu1227Asp
ENST00000205557.12:c.3681G>T MANE Select	ENSP00000205557.7:p.Glu1227Asp
ENST00000640696.1:c.495G>T	ENSP00000492197.1:p.Glu165Asp
ENST00000205557.11:c.3681G>T	ENSP00000205557.7:p.Glu1227Asp
ENST00000456970.6:c.3306G>T	ENSP00000405002.2:n.3306G>T
ENST00000622290.4:c.*890G>T	ENSP00000483331.1:n.*890G>T
NM_001171.5:c.3681G>T	NP_001162.4:p.Glu1227Asp
XM_011522479.1:c.3648G>T	XP_011520781.1:p.Glu1216Asp
XM_011522480.1:c.3339G>T	XP_011520782.1:p.Glu1113Asp
XM_011522481.1:c.3339G>T	XP_011520783.1:p.Glu1113Asp
XR_932836.1:n.3916G>T
XR_932837.1:n.3717G>T
XR_932838.1:n.3717G>T
XR_933134.1:n.539-245C>A
NM_001351800.1:c.3339G>T	NP_001338729.1:p.Glu1113Asp
NR_147784.1:n.3343G>T
XM_011522479.2:c.3648G>T	XP_011520781.1:p.Glu1216Asp
XM_011522481.3:c.3339G>T	XP_011520783.1:p.Glu1113Asp
XM_017023212.1:c.3513G>T	XP_016878701.1:p.Glu1171Asp
XM_024450261.1:c.3717G>T	XP_024306029.1:p.Glu1239Asp
XR_932836.2:n.3862G>T
XR_932837.3:n.3662G>T
XR_932838.3:n.3662G>T
NM_001171.6:c.3681G>T MANE Select	NP_001162.5:p.Glu1227Asp