Canonical Allele Identifier: CA5237934

Gene: GOLGA1

Linked Data

• dbSNP Id: rs583134
• ExAC: 9:127674200 A / C
• gnomAD v2: 9-127674200-A-C
• gnomAD v3: 9-124911921-A-C
• gnomAD v4: 9-124911921-A-C
• MyVariant Identifiers: chr9:g.127674200A>C (hg19) ; chr9:g.124911921A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124911921A>C , CM000671.2:g.124911921A>C	GRCh38
NC_000009.11:g.127674200A>C , CM000671.1:g.127674200A>C	GRCh37
NC_000009.10:g.126714021A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373555.9:c.949T>G MANE Select	ENSP00000362656.4:p.Leu317Val
ENST00000373555.8:c.949T>G	ENSP00000362656.4:p.Leu317Val
ENST00000475407.5:c.600T>G
ENST00000485337.1:c.277T>G	ENSP00000435006.1:p.Leu93Val
XM_005251929.2:c.949T>G	XP_005251986.1:p.Leu317Val
XM_006717062.2:c.949T>G	XP_006717125.1:p.Leu317Val
XM_006717063.2:c.949T>G	XP_006717126.1:p.Leu317Val
XR_929766.1:n.1298T>G
XM_005251929.4:c.949T>G	XP_005251986.1:p.Leu317Val
XM_006717062.4:c.949T>G	XP_006717125.1:p.Leu317Val
XM_006717063.4:c.949T>G	XP_006717126.1:p.Leu317Val
NM_002077.4:c.949T>G MANE Select	NP_002068.2:p.Leu317Val