Canonical Allele Identifier: CA386437432

Gene: SART3

Linked Data

• gnomAD v4: 12-108530289-G-A
• MyVariant Identifiers: chr12:g.108924066G>A (hg19) ; chr12:g.108530289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530289G>A , CM000674.2:g.108530289G>A	GRCh38
NC_000012.11:g.108924066G>A , CM000674.1:g.108924066G>A	GRCh37
NC_000012.10:g.107448196G>A	NCBI36
NG_012155.1:g.36100C>T
NG_012155.2:g.36101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1822C>T	ENSP00000228284.4:p.Leu608Phe
ENST00000546815.6:c.1768C>T MANE Select	ENSP00000449386.2:p.Leu590Phe
ENST00000651280.1:c.*924C>T	ENSP00000498612.1:n.*924C>T
ENST00000228284.7:c.1768C>T	ENSP00000228284.3:p.Leu590Phe
ENST00000431469.6:c.1660C>T	ENSP00000414453.2:p.Leu554Phe
ENST00000546728.5:c.*662C>T	ENSP00000449743.1:n.*662C>T
ENST00000546815.5:c.1822C>T	ENSP00000449386.1:p.Leu608Phe
ENST00000547528.5:c.*932C>T	ENSP00000446577.1:n.*932C>T
ENST00000548582.5:n.495C>T
ENST00000619503.4:n.704C>T
NM_014706.3:c.1768C>T	NP_055521.1:p.Leu590Phe
XM_005269241.3:c.1822C>T	XP_005269298.1:p.Leu608Phe
XM_011539026.1:c.904C>T	XP_011537328.1:p.Leu302Phe
NM_014706.4:c.1768C>T MANE Select	NP_055521.1:p.Leu590Phe
XM_005269241.5:c.1822C>T	XP_005269298.1:p.Leu608Phe
XM_024449284.1:c.904C>T	XP_024305052.1:p.Leu302Phe