Canonical Allele Identifier: CA394876028

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154997-G-T
• MyVariant Identifiers: chr16:g.16248854G>T (hg19) ; chr16:g.16154997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154997G>T , CM000678.2:g.16154997G>T	GRCh38
NC_000016.9:g.16248854G>T , CM000678.1:g.16248854G>T	GRCh37
NC_000016.8:g.16156355G>T	NCBI36
NG_007558.2:g.73475C>A
NG_007558.3:g.73621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.780C>A
ENST00000622290.5:c.*89C>A	ENSP00000483331.2:n.*89C>A
ENST00000205557.12:c.3917C>A MANE Select	ENSP00000205557.7:p.Ser1306Tyr
ENST00000640696.1:c.731C>A	ENSP00000492197.1:p.Ser244Tyr
ENST00000205557.11:c.3917C>A	ENSP00000205557.7:p.Ser1306Tyr
ENST00000456970.6:c.3542C>A	ENSP00000405002.2:n.3542C>A
ENST00000576204.5:n.780C>A
ENST00000622290.4:c.*1126C>A	ENSP00000483331.1:n.*1126C>A
NM_001171.5:c.3917C>A	NP_001162.4:p.Ser1306Tyr
XM_011522479.1:c.3884C>A	XP_011520781.1:p.Ser1295Tyr
XM_011522480.1:c.3575C>A	XP_011520782.1:p.Ser1192Tyr
XM_011522481.1:c.3575C>A	XP_011520783.1:p.Ser1192Tyr
XR_932836.1:n.4215C>A
XR_932837.1:n.3953C>A
XR_932838.1:n.4016C>A
XR_933134.1:n.539-4784G>T
NM_001351800.1:c.3575C>A	NP_001338729.1:p.Ser1192Tyr
NR_147784.1:n.3579C>A
XM_011522479.2:c.3884C>A	XP_011520781.1:p.Ser1295Tyr
XM_011522481.3:c.3575C>A	XP_011520783.1:p.Ser1192Tyr
XM_017023212.1:c.3749C>A	XP_016878701.1:p.Ser1250Tyr
XM_024450261.1:c.3953C>A	XP_024306029.1:p.Ser1318Tyr
XR_932836.2:n.4161C>A
XR_932837.3:n.3898C>A
XR_932838.3:n.3961C>A
NM_001171.6:c.3917C>A MANE Select	NP_001162.5:p.Ser1306Tyr