Canonical Allele Identifier: CA493800793
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16291917A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16198060A>C , CM000678.2:g.16198060A>C GRCh38
NC_000016.9:g.16291917A>C , CM000678.1:g.16291917A>C GRCh37
NC_000016.8:g.16199418A>C NCBI36
NG_007558.2:g.30412T>G
NG_007558.3:g.30558T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1299T>G ENSP00000507301.1:p.Pro433=
ENST00000622290.5:c.1299T>G ENSP00000483331.2:p.Pro433=
ENST00000205557.12:c.1299T>G MANE Select ENSP00000205557.7:p.Pro433=
ENST00000205557.11:c.1299T>G ENSP00000205557.7:p.Pro433=
ENST00000456970.6:c.1299T>G ENSP00000405002.2:p.Pro433=
ENST00000574094.5:n.1395T>G
ENST00000622290.4:c.1299T>G ENSP00000483331.1:p.Pro433=
NM_001171.5:c.1299T>G NP_001162.4:p.Pro433=
XM_011522479.1:c.1299T>G XP_011520781.1:p.Pro433=
XM_011522480.1:c.957T>G XP_011520782.1:p.Pro319=
XM_011522481.1:c.957T>G XP_011520783.1:p.Pro319=
XM_011522482.1:c.1299T>G XP_011520784.1:p.Pro433=
XR_932836.1:n.1534T>G
XR_932837.1:n.1535T>G
XR_932838.1:n.1535T>G
NM_001351800.1:c.957T>G NP_001338729.1:p.Pro319=
NR_147784.1:n.1336T>G
XM_011522479.2:c.1299T>G XP_011520781.1:p.Pro433=
XM_011522481.3:c.957T>G XP_011520783.1:p.Pro319=
XM_011522482.3:c.1299T>G XP_011520784.1:p.Pro433=
XM_017023212.1:c.1299T>G XP_016878701.1:p.Pro433=
XM_017023214.1:c.1299T>G XP_016878703.1:p.Pro433=
XM_024450261.1:c.1335T>G XP_024306029.1:p.Pro445=
XR_932836.2:n.1480T>G
XR_932837.3:n.1480T>G
XR_932838.3:n.1480T>G
NM_001171.6:c.1299T>G MANE Select NP_001162.5:p.Pro433=