Canonical Allele Identifier: CA394883015

Gene: ABCC6

Linked Data

• dbSNP Id: rs1310418153
• gnomAD v2: 16-16259581-A-C
• gnomAD v3: 16-16165724-A-C
• gnomAD v4: 16-16165724-A-C
• MyVariant Identifiers: chr16:g.16259581A>C (hg19) ; chr16:g.16165724A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165724A>C , CM000678.2:g.16165724A>C	GRCh38
NC_000016.9:g.16259581A>C , CM000678.1:g.16259581A>C	GRCh37
NC_000016.8:g.16167082A>C	NCBI36
NG_007558.2:g.62748T>G
NG_007558.3:g.62894T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3205T>G	ENSP00000483331.2:p.Tyr1069Asp
ENST00000205557.12:c.3205T>G MANE Select	ENSP00000205557.7:p.Tyr1069Asp
ENST00000640696.1:c.220T>G	ENSP00000492197.1:p.Tyr74Asp
ENST00000205557.11:c.3205T>G	ENSP00000205557.7:p.Tyr1069Asp
ENST00000456970.6:c.3030T>G	ENSP00000405002.2:n.3030T>G
ENST00000622290.4:c.*414T>G	ENSP00000483331.1:n.*414T>G
NM_001171.5:c.3205T>G	NP_001162.4:p.Tyr1069Asp
XM_011522479.1:c.3172T>G	XP_011520781.1:p.Tyr1058Asp
XM_011522480.1:c.2863T>G	XP_011520782.1:p.Tyr955Asp
XM_011522481.1:c.2863T>G	XP_011520783.1:p.Tyr955Asp
XR_932836.1:n.3440T>G
XR_932837.1:n.3441T>G
XR_932838.1:n.3441T>G
NM_001351800.1:c.2863T>G	NP_001338729.1:p.Tyr955Asp
NR_147784.1:n.3067T>G
XM_011522479.2:c.3172T>G	XP_011520781.1:p.Tyr1058Asp
XM_011522481.3:c.2863T>G	XP_011520783.1:p.Tyr955Asp
XM_017023212.1:c.3037T>G	XP_016878701.1:p.Tyr1013Asp
XM_017023214.1:c.3205T>G	XP_016878703.1:p.Tyr1069Asp
XM_024450261.1:c.3241T>G	XP_024306029.1:p.Tyr1081Asp
XR_932836.2:n.3386T>G
XR_932837.3:n.3386T>G
XR_932838.3:n.3386T>G
NM_001171.6:c.3205T>G MANE Select	NP_001162.5:p.Tyr1069Asp