Canonical Allele Identifier: CA2575924570

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150507-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150507A>G , CM000678.2:g.16150507A>G	GRCh38
NC_000016.9:g.16244364A>G , CM000678.1:g.16244364A>G	GRCh37
NC_000016.8:g.16151865A>G	NCBI36
NG_007558.2:g.77965T>C
NG_007558.3:g.78111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*575+71T>C	ENSP00000483331.2:n.*575+71T>C
ENST00000205557.12:c.4403+71T>C MANE Select	ENSP00000205557.7:n.4403+71T>C
ENST00000640696.1:c.1217+71T>C	ENSP00000492197.1:n.1217+71T>C
ENST00000205557.11:c.4403+71T>C	ENSP00000205557.7:n.4403+71T>C
ENST00000456970.6:c.4028+71T>C	ENSP00000405002.2:n.4028+71T>C
ENST00000576204.5:n.1266+71T>C
ENST00000622290.4:c.*1612+71T>C	ENSP00000483331.1:n.*1612+71T>C
NM_001171.5:c.4403+71T>C	NP_001162.4:n.4403+71T>C
XM_011522479.1:c.4370+71T>C	XP_011520781.1:n.4370+71T>C
XM_011522480.1:c.4061+71T>C	XP_011520782.1:n.4061+71T>C
XM_011522481.1:c.4061+71T>C	XP_011520783.1:n.4061+71T>C
XR_933134.1:n.538+6217A>G
NM_001351800.1:c.4061+71T>C	NP_001338729.1:n.4061+71T>C
NR_147784.1:n.4065+71T>C
XM_011522479.2:c.4370+71T>C	XP_011520781.1:n.4370+71T>C
XM_011522481.3:c.4061+71T>C	XP_011520783.1:n.4061+71T>C
XM_017023212.1:c.4235+71T>C	XP_016878701.1:n.4235+71T>C
XM_024450261.1:c.4439+71T>C	XP_024306029.1:n.4439+71T>C
NM_001171.6:c.4403+71T>C MANE Select	NP_001162.5:n.4403+71T>C