Canonical Allele Identifier: CA481670523

Gene: SART3

Linked Data

• dbSNP Id: rs1441780937
• gnomAD v2: 12-108924067-G-T
• gnomAD v3: 12-108530290-G-T
• gnomAD v4: 12-108530290-G-T
• MyVariant Identifiers: chr12:g.108924067G>T (hg19) ; chr12:g.108530290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530290G>T , CM000674.2:g.108530290G>T	GRCh38
NC_000012.11:g.108924067G>T , CM000674.1:g.108924067G>T	GRCh37
NC_000012.10:g.107448197G>T	NCBI36
NG_012155.1:g.36099C>A
NG_012155.2:g.36100C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1821C>A	ENSP00000228284.4:p.Ala607=
ENST00000546815.6:c.1767C>A MANE Select	ENSP00000449386.2:p.Ala589=
ENST00000651280.1:c.*923C>A	ENSP00000498612.1:n.*923C>A
ENST00000228284.7:c.1767C>A	ENSP00000228284.3:p.Ala589=
ENST00000431469.6:c.1659C>A	ENSP00000414453.2:p.Ala553=
ENST00000546728.5:c.*661C>A	ENSP00000449743.1:n.*661C>A
ENST00000546815.5:c.1821C>A	ENSP00000449386.1:p.Ala607=
ENST00000547528.5:c.*931C>A	ENSP00000446577.1:n.*931C>A
ENST00000548582.5:n.494C>A
ENST00000619503.4:n.703C>A
NM_014706.3:c.1767C>A	NP_055521.1:p.Ala589=
XM_005269241.3:c.1821C>A	XP_005269298.1:p.Ala607=
XM_011539026.1:c.903C>A	XP_011537328.1:p.Ala301=
NM_014706.4:c.1767C>A MANE Select	NP_055521.1:p.Ala589=
XM_005269241.5:c.1821C>A	XP_005269298.1:p.Ala607=
XM_024449284.1:c.903C>A	XP_024305052.1:p.Ala301=