Canonical Allele Identifier: CA386437464

Gene: SART3

Linked Data

• MyVariant Identifiers: chr12:g.108924071G>T (hg19) ; chr12:g.108530294G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530294G>T , CM000674.2:g.108530294G>T	GRCh38
NC_000012.11:g.108924071G>T , CM000674.1:g.108924071G>T	GRCh37
NC_000012.10:g.107448201G>T	NCBI36
NG_012155.1:g.36095C>A
NG_012155.2:g.36096C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1817C>A	ENSP00000228284.4:p.Ala606Glu
ENST00000546815.6:c.1763C>A MANE Select	ENSP00000449386.2:p.Ala588Glu
ENST00000651280.1:c.*919C>A	ENSP00000498612.1:n.*919C>A
ENST00000228284.7:c.1763C>A	ENSP00000228284.3:p.Ala588Glu
ENST00000431469.6:c.1655C>A	ENSP00000414453.2:p.Ala552Glu
ENST00000546728.5:c.*657C>A	ENSP00000449743.1:n.*657C>A
ENST00000546815.5:c.1817C>A	ENSP00000449386.1:p.Ala606Glu
ENST00000547528.5:c.*927C>A	ENSP00000446577.1:n.*927C>A
ENST00000548582.5:n.490C>A
ENST00000619503.4:n.699C>A
NM_014706.3:c.1763C>A	NP_055521.1:p.Ala588Glu
XM_005269241.3:c.1817C>A	XP_005269298.1:p.Ala606Glu
XM_011539026.1:c.899C>A	XP_011537328.1:p.Ala300Glu
NM_014706.4:c.1763C>A MANE Select	NP_055521.1:p.Ala588Glu
XM_005269241.5:c.1817C>A	XP_005269298.1:p.Ala606Glu
XM_024449284.1:c.899C>A	XP_024305052.1:p.Ala300Glu