Canonical Allele Identifier: CA394884908

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169795-T-C
• MyVariant Identifiers: chr16:g.16263652T>C (hg19) ; chr16:g.16169795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169795T>C , CM000678.2:g.16169795T>C	GRCh38
NC_000016.9:g.16263652T>C , CM000678.1:g.16263652T>C	GRCh37
NC_000016.8:g.16171153T>C	NCBI36
NG_007558.2:g.58677A>G
NG_007558.3:g.58823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2846A>G	ENSP00000483331.2:p.Tyr949Cys
ENST00000205557.12:c.2846A>G MANE Select	ENSP00000205557.7:p.Tyr949Cys
ENST00000205557.11:c.2846A>G	ENSP00000205557.7:p.Tyr949Cys
ENST00000456970.6:c.2671A>G	ENSP00000405002.2:n.2671A>G
ENST00000622290.4:c.*55A>G	ENSP00000483331.1:n.*55A>G
NM_001171.5:c.2846A>G	NP_001162.4:p.Tyr949Cys
XM_011522479.1:c.2813A>G	XP_011520781.1:p.Tyr938Cys
XM_011522480.1:c.2504A>G	XP_011520782.1:p.Tyr835Cys
XM_011522481.1:c.2504A>G	XP_011520783.1:p.Tyr835Cys
XR_932836.1:n.3081A>G
XR_932837.1:n.3082A>G
XR_932838.1:n.3082A>G
NM_001351800.1:c.2504A>G	NP_001338729.1:p.Tyr835Cys
NR_147784.1:n.2708A>G
XM_011522479.2:c.2813A>G	XP_011520781.1:p.Tyr938Cys
XM_011522481.3:c.2504A>G	XP_011520783.1:p.Tyr835Cys
XM_017023212.1:c.2678A>G	XP_016878701.1:p.Tyr893Cys
XM_017023214.1:c.2846A>G	XP_016878703.1:p.Tyr949Cys
XM_024450261.1:c.2882A>G	XP_024306029.1:p.Tyr961Cys
XR_932836.2:n.3027A>G
XR_932837.3:n.3027A>G
XR_932838.3:n.3027A>G
NM_001171.6:c.2846A>G MANE Select	NP_001162.5:p.Tyr949Cys