Canonical Allele Identifier: CA2631961398

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16149942-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149942T>C , CM000678.2:g.16149942T>C	GRCh38
NC_000016.9:g.16243799T>C , CM000678.1:g.16243799T>C	GRCh37
NC_000016.8:g.16151300T>C	NCBI36
NG_007558.2:g.78530A>G
NG_007558.3:g.78676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*875A>G	ENSP00000483331.2:n.*875A>G
ENST00000205557.12:c.*191A>G MANE Select	ENSP00000205557.7:n.*191A>G
ENST00000640696.1:c.1517A>G	ENSP00000492197.1:n.1517A>G
ENST00000205557.11:c.*191A>G	ENSP00000205557.7:n.*191A>G
ENST00000576204.5:n.1566A>G
ENST00000622290.4:c.*1912A>G	ENSP00000483331.1:n.*1912A>G
NM_001171.5:c.*191A>G	NP_001162.4:n.*191A>G
XM_011522479.1:c.*191A>G	XP_011520781.1:n.*191A>G
XM_011522480.1:c.*191A>G	XP_011520782.1:n.*191A>G
XM_011522481.1:c.*191A>G	XP_011520783.1:n.*191A>G
XR_933134.1:n.538+5652T>C
NM_001351800.1:c.*191A>G	NP_001338729.1:n.*191A>G
NR_147784.1:n.4365A>G
XM_011522479.2:c.*191A>G	XP_011520781.1:n.*191A>G
XM_011522481.3:c.*191A>G	XP_011520783.1:n.*191A>G
XM_017023212.1:c.*191A>G	XP_016878701.1:n.*191A>G
XM_024450261.1:c.*191A>G	XP_024306029.1:n.*191A>G
NM_001171.6:c.*191A>G MANE Select	NP_001162.5:n.*191A>G