Canonical Allele Identifier: CA394875755

Gene: ABCC6

Linked Data

• dbSNP Id: rs1228722715
• gnomAD v2: 16-16248816-C-A
• gnomAD v4: 16-16154959-C-A
• MyVariant Identifiers: chr16:g.16248816C>A (hg19) ; chr16:g.16154959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154959C>A , CM000678.2:g.16154959C>A	GRCh38
NC_000016.9:g.16248816C>A , CM000678.1:g.16248816C>A	GRCh37
NC_000016.8:g.16156317C>A	NCBI36
NG_007558.2:g.73513G>T
NG_007558.3:g.73659G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.818G>T
ENST00000622290.5:c.*127G>T	ENSP00000483331.2:n.*127G>T
ENST00000205557.12:c.3955G>T MANE Select	ENSP00000205557.7:p.Ala1319Ser
ENST00000640696.1:c.769G>T	ENSP00000492197.1:p.Ala257Ser
ENST00000205557.11:c.3955G>T	ENSP00000205557.7:p.Ala1319Ser
ENST00000456970.6:c.3580G>T	ENSP00000405002.2:n.3580G>T
ENST00000576204.5:n.818G>T
ENST00000622290.4:c.*1164G>T	ENSP00000483331.1:n.*1164G>T
NM_001171.5:c.3955G>T	NP_001162.4:p.Ala1319Ser
XM_011522479.1:c.3922G>T	XP_011520781.1:p.Ala1308Ser
XM_011522480.1:c.3613G>T	XP_011520782.1:p.Ala1205Ser
XM_011522481.1:c.3613G>T	XP_011520783.1:p.Ala1205Ser
XR_932836.1:n.4253G>T
XR_932837.1:n.3991G>T
XR_932838.1:n.4054G>T
XR_933134.1:n.539-4822C>A
NM_001351800.1:c.3613G>T	NP_001338729.1:p.Ala1205Ser
NR_147784.1:n.3617G>T
XM_011522479.2:c.3922G>T	XP_011520781.1:p.Ala1308Ser
XM_011522481.3:c.3613G>T	XP_011520783.1:p.Ala1205Ser
XM_017023212.1:c.3787G>T	XP_016878701.1:p.Ala1263Ser
XM_024450261.1:c.3991G>T	XP_024306029.1:p.Ala1331Ser
XR_932837.3:n.3936G>T
NM_001171.6:c.3955G>T MANE Select	NP_001162.5:p.Ala1319Ser