Canonical Allele Identifier: CA7925595

Gene: ABCC6

Linked Data

• dbSNP Id: rs774256027
• ExAC: 16:16256980 G / A
• gnomAD v2: 16-16256980-G-A
• gnomAD v4: 16-16163123-G-A
• MyVariant Identifiers: chr16:g.16256980G>A (hg19) ; chr16:g.16163123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163123G>A , CM000678.2:g.16163123G>A	GRCh38
NC_000016.9:g.16256980G>A , CM000678.1:g.16256980G>A	GRCh37
NC_000016.8:g.16164481G>A	NCBI36
NG_007558.2:g.65349C>T
NG_007558.3:g.65495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3376C>T	ENSP00000483331.2:p.His1126Tyr
ENST00000205557.12:c.3376C>T MANE Select	ENSP00000205557.7:p.His1126Tyr
ENST00000640696.1:c.321-1559C>T	ENSP00000492197.1:n.321-1559C>T
ENST00000205557.11:c.3376C>T	ENSP00000205557.7:p.His1126Tyr
ENST00000456970.6:c.3132-1559C>T	ENSP00000405002.2:n.3132-1559C>T
ENST00000622290.4:c.*585C>T	ENSP00000483331.1:n.*585C>T
NM_001171.5:c.3376C>T	NP_001162.4:p.His1126Tyr
XM_011522479.1:c.3343C>T	XP_011520781.1:p.His1115Tyr
XM_011522480.1:c.3034C>T	XP_011520782.1:p.His1012Tyr
XM_011522481.1:c.3034C>T	XP_011520783.1:p.His1012Tyr
XR_932836.1:n.3611C>T
XR_932837.1:n.3543-1559C>T
XR_932838.1:n.3543-1559C>T
XR_933133.1:n.407+280G>A
XR_933134.1:n.754+280G>A
NM_001351800.1:c.3034C>T	NP_001338729.1:p.His1012Tyr
NR_147784.1:n.3169-1559C>T
XM_011522479.2:c.3343C>T	XP_011520781.1:p.His1115Tyr
XM_011522481.3:c.3034C>T	XP_011520783.1:p.His1012Tyr
XM_017023212.1:c.3208C>T	XP_016878701.1:p.His1070Tyr
XM_017023214.1:c.3307-1559C>T	XP_016878703.1:n.3307-1559C>T
XM_024450261.1:c.3412C>T	XP_024306029.1:p.His1138Tyr
XR_932836.2:n.3557C>T
XR_932837.3:n.3488-1559C>T
XR_932838.3:n.3488-1559C>T
NM_001171.6:c.3376C>T MANE Select	NP_001162.5:p.His1126Tyr