Canonical Allele Identifier: CA6768011

Gene: SART3

Linked Data

• dbSNP Id: rs765631090
• ExAC: 12:108924064 A / T
• gnomAD v2: 12-108924064-A-T
• gnomAD v4: 12-108530287-A-T
• MyVariant Identifiers: chr12:g.108924064A>T (hg19) ; chr12:g.108530287A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530287A>T , CM000674.2:g.108530287A>T	GRCh38
NC_000012.11:g.108924064A>T , CM000674.1:g.108924064A>T	GRCh37
NC_000012.10:g.107448194A>T	NCBI36
NG_012155.1:g.36102T>A
NG_012155.2:g.36103T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1824T>A	ENSP00000228284.4:p.Leu608=
ENST00000546815.6:c.1770T>A MANE Select	ENSP00000449386.2:p.Leu590=
ENST00000651280.1:c.*926T>A	ENSP00000498612.1:n.*926T>A
ENST00000228284.7:c.1770T>A	ENSP00000228284.3:p.Leu590=
ENST00000431469.6:c.1662T>A	ENSP00000414453.2:p.Leu554=
ENST00000546728.5:c.*664T>A	ENSP00000449743.1:n.*664T>A
ENST00000546815.5:c.1824T>A	ENSP00000449386.1:p.Leu608=
ENST00000547528.5:c.*934T>A	ENSP00000446577.1:n.*934T>A
ENST00000548582.5:n.497T>A
ENST00000619503.4:n.706T>A
NM_014706.3:c.1770T>A	NP_055521.1:p.Leu590=
XM_005269241.3:c.1824T>A	XP_005269298.1:p.Leu608=
XM_011539026.1:c.906T>A	XP_011537328.1:p.Leu302=
NM_014706.4:c.1770T>A MANE Select	NP_055521.1:p.Leu590=
XM_005269241.5:c.1824T>A	XP_005269298.1:p.Leu608=
XM_024449284.1:c.906T>A	XP_024305052.1:p.Leu302=