Canonical Allele Identifier: CA394878677

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159490-G-A
• MyVariant Identifiers: chr16:g.16253347G>A (hg19) ; chr16:g.16159490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159490G>A , CM000678.2:g.16159490G>A	GRCh38
NC_000016.9:g.16253347G>A , CM000678.1:g.16253347G>A	GRCh37
NC_000016.8:g.16160848G>A	NCBI36
NG_007558.2:g.68982C>T
NG_007558.3:g.69128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3727C>T	ENSP00000483331.2:p.Pro1243Ser
ENST00000205557.12:c.3727C>T MANE Select	ENSP00000205557.7:p.Pro1243Ser
ENST00000640696.1:c.541C>T	ENSP00000492197.1:p.Pro181Ser
ENST00000205557.11:c.3727C>T	ENSP00000205557.7:p.Pro1243Ser
ENST00000456970.6:c.3352C>T	ENSP00000405002.2:n.3352C>T
ENST00000622290.4:c.*936C>T	ENSP00000483331.1:n.*936C>T
NM_001171.5:c.3727C>T	NP_001162.4:p.Pro1243Ser
XM_011522479.1:c.3694C>T	XP_011520781.1:p.Pro1232Ser
XM_011522480.1:c.3385C>T	XP_011520782.1:p.Pro1129Ser
XM_011522481.1:c.3385C>T	XP_011520783.1:p.Pro1129Ser
XR_932836.1:n.3962C>T
XR_932837.1:n.3763C>T
XR_932838.1:n.3763C>T
XR_933134.1:n.539-291G>A
NM_001351800.1:c.3385C>T	NP_001338729.1:p.Pro1129Ser
NR_147784.1:n.3389C>T
XM_011522479.2:c.3694C>T	XP_011520781.1:p.Pro1232Ser
XM_011522481.3:c.3385C>T	XP_011520783.1:p.Pro1129Ser
XM_017023212.1:c.3559C>T	XP_016878701.1:p.Pro1187Ser
XM_024450261.1:c.3763C>T	XP_024306029.1:p.Pro1255Ser
XR_932836.2:n.3908C>T
XR_932837.3:n.3708C>T
XR_932838.3:n.3708C>T
NM_001171.6:c.3727C>T MANE Select	NP_001162.5:p.Pro1243Ser