Canonical Allele Identifier: CA394885040

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169832-C-A
• MyVariant Identifiers: chr16:g.16263689C>A (hg19) ; chr16:g.16169832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169832C>A , CM000678.2:g.16169832C>A	GRCh38
NC_000016.9:g.16263689C>A , CM000678.1:g.16263689C>A	GRCh37
NC_000016.8:g.16171190C>A	NCBI36
NG_007558.2:g.58640G>T
NG_007558.3:g.58786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2809G>T	ENSP00000483331.2:p.Ala937Ser
ENST00000205557.12:c.2809G>T MANE Select	ENSP00000205557.7:p.Ala937Ser
ENST00000205557.11:c.2809G>T	ENSP00000205557.7:p.Ala937Ser
ENST00000456970.6:c.2634G>T	ENSP00000405002.2:n.2634G>T
ENST00000622290.4:c.*18G>T	ENSP00000483331.1:n.*18G>T
NM_001171.5:c.2809G>T	NP_001162.4:p.Ala937Ser
XM_011522479.1:c.2776G>T	XP_011520781.1:p.Ala926Ser
XM_011522480.1:c.2467G>T	XP_011520782.1:p.Ala823Ser
XM_011522481.1:c.2467G>T	XP_011520783.1:p.Ala823Ser
XR_932836.1:n.3044G>T
XR_932837.1:n.3045G>T
XR_932838.1:n.3045G>T
NM_001351800.1:c.2467G>T	NP_001338729.1:p.Ala823Ser
NR_147784.1:n.2671G>T
XM_011522479.2:c.2776G>T	XP_011520781.1:p.Ala926Ser
XM_011522481.3:c.2467G>T	XP_011520783.1:p.Ala823Ser
XM_017023212.1:c.2641G>T	XP_016878701.1:p.Ala881Ser
XM_017023214.1:c.2809G>T	XP_016878703.1:p.Ala937Ser
XM_024450261.1:c.2845G>T	XP_024306029.1:p.Ala949Ser
XR_932836.2:n.2990G>T
XR_932837.3:n.2990G>T
XR_932838.3:n.2990G>T
NM_001171.6:c.2809G>T MANE Select	NP_001162.5:p.Ala937Ser