Canonical Allele Identifier: CA394882647

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16165652-G-A
• MyVariant Identifiers: chr16:g.16259509G>A (hg19) ; chr16:g.16165652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165652G>A , CM000678.2:g.16165652G>A	GRCh38
NC_000016.9:g.16259509G>A , CM000678.1:g.16259509G>A	GRCh37
NC_000016.8:g.16167010G>A	NCBI36
NG_007558.2:g.62820C>T
NG_007558.3:g.62966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3277C>T	ENSP00000483331.2:p.Pro1093Ser
ENST00000205557.12:c.3277C>T MANE Select	ENSP00000205557.7:p.Pro1093Ser
ENST00000640696.1:c.291C>T	ENSP00000492197.1:p.Cys97=
ENST00000205557.11:c.3277C>T	ENSP00000205557.7:p.Pro1093Ser
ENST00000456970.6:c.3102C>T	ENSP00000405002.2:n.3102C>T
ENST00000622290.4:c.*486C>T	ENSP00000483331.1:n.*486C>T
NM_001171.5:c.3277C>T	NP_001162.4:p.Pro1093Ser
XM_011522479.1:c.3244C>T	XP_011520781.1:p.Pro1082Ser
XM_011522480.1:c.2935C>T	XP_011520782.1:p.Pro979Ser
XM_011522481.1:c.2935C>T	XP_011520783.1:p.Pro979Ser
XR_932836.1:n.3512C>T
XR_932837.1:n.3513C>T
XR_932838.1:n.3513C>T
NM_001351800.1:c.2935C>T	NP_001338729.1:p.Pro979Ser
NR_147784.1:n.3139C>T
XM_011522479.2:c.3244C>T	XP_011520781.1:p.Pro1082Ser
XM_011522481.3:c.2935C>T	XP_011520783.1:p.Pro979Ser
XM_017023212.1:c.3109C>T	XP_016878701.1:p.Pro1037Ser
XM_017023214.1:c.3277C>T	XP_016878703.1:p.Pro1093Ser
XM_024450261.1:c.3313C>T	XP_024306029.1:p.Pro1105Ser
XR_932836.2:n.3458C>T
XR_932837.3:n.3458C>T
XR_932838.3:n.3458C>T
NM_001171.6:c.3277C>T MANE Select	NP_001162.5:p.Pro1093Ser