Canonical Allele Identifier: CA7448011

Gene: GOLGA8J

Linked Data

• ClinVar Variation Id: 771194
• ClinVar RCV Id: RCV000950457
• dbSNP Id: rs201797381
• ExAC: 15:30385632 A / C
• gnomAD v2: 15-30385632-A-C
• gnomAD v3: 15-30093429-A-C
• gnomAD v4: 15-30093429-A-C
• MyVariant Identifiers: chr15:g.30385632A>C (hg19) ; chr15:g.30093429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30093429A>C , CM000677.2:g.30093429A>C	GRCh38
NC_000015.9:g.30385632A>C , CM000677.1:g.30385632A>C	GRCh37
NC_000015.8:g.28172924A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567927.2:c.1829A>C MANE Select	ENSP00000456401.1:p.His610Pro
ENST00000567927.1:c.1829A>C	ENSP00000456401.1:p.His610Pro
NM_001282472.1:c.1829A>C	NP_001269401.1:p.His610Pro
XM_006720651.2:c.1790A>C	XP_006720714.1:p.His597Pro
XM_011521949.1:c.1586A>C	XP_011520251.1:p.His529Pro
XM_006720651.3:c.1790A>C	XP_006720714.1:p.His597Pro
NM_001282472.2:c.1829A>C MANE Select	NP_001269401.1:p.His610Pro