Canonical Allele Identifier: CA394875978

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154989-C-A
• MyVariant Identifiers: chr16:g.16248846C>A (hg19) ; chr16:g.16154989C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154989C>A , CM000678.2:g.16154989C>A	GRCh38
NC_000016.9:g.16248846C>A , CM000678.1:g.16248846C>A	GRCh37
NC_000016.8:g.16156347C>A	NCBI36
NG_007558.2:g.73483G>T
NG_007558.3:g.73629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.788G>T
ENST00000622290.5:c.*97G>T	ENSP00000483331.2:n.*97G>T
ENST00000205557.12:c.3925G>T MANE Select	ENSP00000205557.7:p.Ala1309Ser
ENST00000640696.1:c.739G>T	ENSP00000492197.1:p.Ala247Ser
ENST00000205557.11:c.3925G>T	ENSP00000205557.7:p.Ala1309Ser
ENST00000456970.6:c.3550G>T	ENSP00000405002.2:n.3550G>T
ENST00000576204.5:n.788G>T
ENST00000622290.4:c.*1134G>T	ENSP00000483331.1:n.*1134G>T
NM_001171.5:c.3925G>T	NP_001162.4:p.Ala1309Ser
XM_011522479.1:c.3892G>T	XP_011520781.1:p.Ala1298Ser
XM_011522480.1:c.3583G>T	XP_011520782.1:p.Ala1195Ser
XM_011522481.1:c.3583G>T	XP_011520783.1:p.Ala1195Ser
XR_932836.1:n.4223G>T
XR_932837.1:n.3961G>T
XR_932838.1:n.4024G>T
XR_933134.1:n.539-4792C>A
NM_001351800.1:c.3583G>T	NP_001338729.1:p.Ala1195Ser
NR_147784.1:n.3587G>T
XM_011522479.2:c.3892G>T	XP_011520781.1:p.Ala1298Ser
XM_011522481.3:c.3583G>T	XP_011520783.1:p.Ala1195Ser
XM_017023212.1:c.3757G>T	XP_016878701.1:p.Ala1253Ser
XM_024450261.1:c.3961G>T	XP_024306029.1:p.Ala1321Ser
XR_932836.2:n.4169G>T
XR_932837.3:n.3906G>T
XR_932838.3:n.3969G>T
NM_001171.6:c.3925G>T MANE Select	NP_001162.5:p.Ala1309Ser