Canonical Allele Identifier: CA394884328

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169688-C-A
• MyVariant Identifiers: chr16:g.16263545C>A (hg19) ; chr16:g.16169688C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169688C>A , CM000678.2:g.16169688C>A	GRCh38
NC_000016.9:g.16263545C>A , CM000678.1:g.16263545C>A	GRCh37
NC_000016.8:g.16171046C>A	NCBI36
NG_007558.2:g.58784G>T
NG_007558.3:g.58930G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2953G>T	ENSP00000483331.2:p.Ala985Ser
ENST00000205557.12:c.2953G>T MANE Select	ENSP00000205557.7:p.Ala985Ser
ENST00000205557.11:c.2953G>T	ENSP00000205557.7:p.Ala985Ser
ENST00000456970.6:c.2778G>T	ENSP00000405002.2:n.2778G>T
ENST00000622290.4:c.*162G>T	ENSP00000483331.1:n.*162G>T
NM_001171.5:c.2953G>T	NP_001162.4:p.Ala985Ser
XM_011522479.1:c.2920G>T	XP_011520781.1:p.Ala974Ser
XM_011522480.1:c.2611G>T	XP_011520782.1:p.Ala871Ser
XM_011522481.1:c.2611G>T	XP_011520783.1:p.Ala871Ser
XR_932836.1:n.3188G>T
XR_932837.1:n.3189G>T
XR_932838.1:n.3189G>T
NM_001351800.1:c.2611G>T	NP_001338729.1:p.Ala871Ser
NR_147784.1:n.2815G>T
XM_011522479.2:c.2920G>T	XP_011520781.1:p.Ala974Ser
XM_011522481.3:c.2611G>T	XP_011520783.1:p.Ala871Ser
XM_017023212.1:c.2785G>T	XP_016878701.1:p.Ala929Ser
XM_017023214.1:c.2953G>T	XP_016878703.1:p.Ala985Ser
XM_024450261.1:c.2989G>T	XP_024306029.1:p.Ala997Ser
XR_932836.2:n.3134G>T
XR_932837.3:n.3134G>T
XR_932838.3:n.3134G>T
NM_001171.6:c.2953G>T MANE Select	NP_001162.5:p.Ala985Ser