Canonical Allele Identifier: CA6767989

Gene: SART3

Linked Data

• dbSNP Id: rs2287546
• ExAC: 12:108923971 C / A
• gnomAD v2: 12-108923971-C-A
• gnomAD v3: 12-108530194-C-A
• gnomAD v4: 12-108530194-C-A
• MyVariant Identifiers: chr12:g.108923971C>A (hg19) ; chr12:g.108530194C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530194C>A , CM000674.2:g.108530194C>A	GRCh38
NC_000012.11:g.108923971C>A , CM000674.1:g.108923971C>A	GRCh37
NC_000012.10:g.107448101C>A	NCBI36
NG_012155.1:g.36195G>T
NG_012155.2:g.36196G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1917G>T	ENSP00000228284.4:p.Glu639Asp
ENST00000546815.6:c.1863G>T MANE Select	ENSP00000449386.2:p.Glu621Asp
ENST00000651280.1:c.*1019G>T	ENSP00000498612.1:n.*1019G>T
ENST00000228284.7:c.1863G>T	ENSP00000228284.3:p.Glu621Asp
ENST00000431469.6:c.1755G>T	ENSP00000414453.2:p.Glu585Asp
ENST00000546728.5:c.*757G>T	ENSP00000449743.1:n.*757G>T
ENST00000546815.5:c.1917G>T	ENSP00000449386.1:p.Glu639Asp
NM_014706.3:c.1863G>T	NP_055521.1:p.Glu621Asp
XM_005269241.3:c.1917G>T	XP_005269298.1:p.Glu639Asp
XM_011539026.1:c.999G>T	XP_011537328.1:p.Glu333Asp
NM_014706.4:c.1863G>T MANE Select	NP_055521.1:p.Glu621Asp
XM_005269241.5:c.1917G>T	XP_005269298.1:p.Glu639Asp
XM_024449284.1:c.999G>T	XP_024305052.1:p.Glu333Asp