Canonical Allele Identifier: CA493799456
Gene: ABCC6 HGNC NCBI

Linked Data

dbSNP Id: rs2046997400
MyVariant Identifiers: chr16:g.16263600G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169743G>A , CM000678.2:g.16169743G>A GRCh38
NC_000016.9:g.16263600G>A , CM000678.1:g.16263600G>A GRCh37
NC_000016.8:g.16171101G>A NCBI36
NG_007558.2:g.58729C>T
NG_007558.3:g.58875C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2898C>T ENSP00000483331.2:p.Tyr966=
ENST00000205557.12:c.2898C>T MANE Select ENSP00000205557.7:p.Tyr966=
ENST00000205557.11:c.2898C>T ENSP00000205557.7:p.Tyr966=
ENST00000456970.6:c.2723C>T ENSP00000405002.2:n.2723C>T
ENST00000622290.4:c.*107C>T ENSP00000483331.1:n.*107C>T
NM_001171.5:c.2898C>T NP_001162.4:p.Tyr966=
XM_011522479.1:c.2865C>T XP_011520781.1:p.Tyr955=
XM_011522480.1:c.2556C>T XP_011520782.1:p.Tyr852=
XM_011522481.1:c.2556C>T XP_011520783.1:p.Tyr852=
XR_932836.1:n.3133C>T
XR_932837.1:n.3134C>T
XR_932838.1:n.3134C>T
NM_001351800.1:c.2556C>T NP_001338729.1:p.Tyr852=
NR_147784.1:n.2760C>T
XM_011522479.2:c.2865C>T XP_011520781.1:p.Tyr955=
XM_011522481.3:c.2556C>T XP_011520783.1:p.Tyr852=
XM_017023212.1:c.2730C>T XP_016878701.1:p.Tyr910=
XM_017023214.1:c.2898C>T XP_016878703.1:p.Tyr966=
XM_024450261.1:c.2934C>T XP_024306029.1:p.Tyr978=
XR_932836.2:n.3079C>T
XR_932837.3:n.3079C>T
XR_932838.3:n.3079C>T
NM_001171.6:c.2898C>T MANE Select NP_001162.5:p.Tyr966=