Canonical Allele Identifier: CA7544218

Gene: BLOC1S6

Linked Data

• ClinVar Variation Id: 434516
• ClinVar RCV Id: RCV000504443 ; RCV000649490 ; RCV003392328
• dbSNP Id: rs145762743
• ExAC: 15:45879675 G / A
• gnomAD v2: 15-45879675-G-A
• gnomAD v3: 15-45587477-G-A
• gnomAD v4: 15-45587477-G-A
• MyVariant Identifiers: chr15:g.45879675G>A (hg19) ; chr15:g.45587477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45587477G>A , CM000677.2:g.45587477G>A	GRCh38
NC_000015.9:g.45879675G>A , CM000677.1:g.45879675G>A	GRCh37
NC_000015.8:g.43666967G>A	NCBI36
NG_028194.2:g.5259G>A , LRG_883:g.5259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220531.9:c.34G>A MANE Select	ENSP00000220531.4:p.Ala12Thr
ENST00000672455.1:c.34G>A	ENSP00000500302.1:p.Ala12Thr
ENST00000220531.7:c.34G>A	ENSP00000220531.3:p.Ala12Thr
ENST00000562384.5:c.-128G>A	ENSP00000457077.1:n.-128G>A
ENST00000564080.1:c.-66G>A	ENSP00000455047.1:n.-66G>A
ENST00000565216.5:c.34G>A	ENSP00000456067.1:p.Ala12Thr
ENST00000566184.1:n.99G>A
ENST00000566753.5:c.34G>A	ENSP00000457478.1:p.Ala12Thr
ENST00000567461.5:c.-116G>A	ENSP00000456152.1:n.-116G>A
ENST00000567523.5:c.34G>A	ENSP00000456624.1:p.Ala12Thr
ENST00000567740.5:n.264G>A
ENST00000568597.5:c.34G>A	ENSP00000454638.1:p.Ala12Thr
ENST00000568963.5:c.34G>A	ENSP00000454438.1:p.Ala12Thr
ENST00000569076.5:c.-92G>A	ENSP00000454803.1:n.-92G>A
NM_012388.2:c.34G>A	NP_036520.1:p.Ala12Thr
NM_012388.3:c.34G>A , LRG_883t1:c.34G>A	NP_036520.1:p.Ala12Thr
NR_132351.1:n.355G>A
NR_132352.1:n.355G>A
NR_132353.1:n.355G>A
NR_132354.1:n.355G>A
NR_132355.1:n.355G>A
NM_012388.4:c.34G>A MANE Select	NP_036520.1:p.Ala12Thr
NR_132351.2:n.99G>A
NR_132352.2:n.99G>A
NR_132355.2:n.99G>A