Canonical Allele Identifier: CA386437452

Gene: SART3

Linked Data

• dbSNP Id: rs1305846922
• gnomAD v2: 12-108924069-C-T
• gnomAD v3: 12-108530292-C-T
• gnomAD v4: 12-108530292-C-T
• MyVariant Identifiers: chr12:g.108924069C>T (hg19) ; chr12:g.108530292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530292C>T , CM000674.2:g.108530292C>T	GRCh38
NC_000012.11:g.108924069C>T , CM000674.1:g.108924069C>T	GRCh37
NC_000012.10:g.107448199C>T	NCBI36
NG_012155.1:g.36097G>A
NG_012155.2:g.36098G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1819G>A	ENSP00000228284.4:p.Ala607Thr
ENST00000546815.6:c.1765G>A MANE Select	ENSP00000449386.2:p.Ala589Thr
ENST00000651280.1:c.*921G>A	ENSP00000498612.1:n.*921G>A
ENST00000228284.7:c.1765G>A	ENSP00000228284.3:p.Ala589Thr
ENST00000431469.6:c.1657G>A	ENSP00000414453.2:p.Ala553Thr
ENST00000546728.5:c.*659G>A	ENSP00000449743.1:n.*659G>A
ENST00000546815.5:c.1819G>A	ENSP00000449386.1:p.Ala607Thr
ENST00000547528.5:c.*929G>A	ENSP00000446577.1:n.*929G>A
ENST00000548582.5:n.492G>A
ENST00000619503.4:n.701G>A
NM_014706.3:c.1765G>A	NP_055521.1:p.Ala589Thr
XM_005269241.3:c.1819G>A	XP_005269298.1:p.Ala607Thr
XM_011539026.1:c.901G>A	XP_011537328.1:p.Ala301Thr
NM_014706.4:c.1765G>A MANE Select	NP_055521.1:p.Ala589Thr
XM_005269241.5:c.1819G>A	XP_005269298.1:p.Ala607Thr
XM_024449284.1:c.901G>A	XP_024305052.1:p.Ala301Thr