Canonical Allele Identifier: CA467121943

Gene: GOLGA1

Linked Data

• dbSNP Id: rs583134
• gnomAD v4: 9-124911921-A-G
• MyVariant Identifiers: chr9:g.127674200A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000373555.9:c.949T>C MANE Select	ENSP00000362656.4:p.Leu317=
ENST00000373555.8:c.949T>C	ENSP00000362656.4:p.Leu317=
ENST00000475407.5:c.600T>C
ENST00000485337.1:c.277T>C	ENSP00000435006.1:p.Leu93=
XM_005251929.2:c.949T>C	XP_005251986.1:p.Leu317=
XM_006717062.2:c.949T>C	XP_006717125.1:p.Leu317=
XM_006717063.2:c.949T>C	XP_006717126.1:p.Leu317=
XR_929766.1:n.1298T>C
XM_005251929.4:c.949T>C	XP_005251986.1:p.Leu317=
XM_006717062.4:c.949T>C	XP_006717125.1:p.Leu317=
XM_006717063.4:c.949T>C	XP_006717126.1:p.Leu317=
NM_002077.4:c.949T>C MANE Select	NP_002068.2:p.Leu317=