Canonical Allele Identifier: CA394885063

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169838-G-A
• MyVariant Identifiers: chr16:g.16263695G>A (hg19) ; chr16:g.16169838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169838G>A , CM000678.2:g.16169838G>A	GRCh38
NC_000016.9:g.16263695G>A , CM000678.1:g.16263695G>A	GRCh37
NC_000016.8:g.16171196G>A	NCBI36
NG_007558.2:g.58634C>T
NG_007558.3:g.58780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2803C>T	ENSP00000483331.2:p.His935Tyr
ENST00000205557.12:c.2803C>T MANE Select	ENSP00000205557.7:p.His935Tyr
ENST00000205557.11:c.2803C>T	ENSP00000205557.7:p.His935Tyr
ENST00000456970.6:c.2628C>T	ENSP00000405002.2:n.2628C>T
ENST00000622290.4:c.*12C>T	ENSP00000483331.1:n.*12C>T
NM_001171.5:c.2803C>T	NP_001162.4:p.His935Tyr
XM_011522479.1:c.2770C>T	XP_011520781.1:p.His924Tyr
XM_011522480.1:c.2461C>T	XP_011520782.1:p.His821Tyr
XM_011522481.1:c.2461C>T	XP_011520783.1:p.His821Tyr
XR_932836.1:n.3038C>T
XR_932837.1:n.3039C>T
XR_932838.1:n.3039C>T
NM_001351800.1:c.2461C>T	NP_001338729.1:p.His821Tyr
NR_147784.1:n.2665C>T
XM_011522479.2:c.2770C>T	XP_011520781.1:p.His924Tyr
XM_011522481.3:c.2461C>T	XP_011520783.1:p.His821Tyr
XM_017023212.1:c.2635C>T	XP_016878701.1:p.His879Tyr
XM_017023214.1:c.2803C>T	XP_016878703.1:p.His935Tyr
XM_024450261.1:c.2839C>T	XP_024306029.1:p.His947Tyr
XR_932836.2:n.2984C>T
XR_932837.3:n.2984C>T
XR_932838.3:n.2984C>T
NM_001171.6:c.2803C>T MANE Select	NP_001162.5:p.His935Tyr