Canonical Allele Identifier: CA607600501

Gene: SART3

Linked Data

• dbSNP Id: rs1194989849
• gnomAD v2: 12-108924135-C-T
• gnomAD v3: 12-108530358-C-T
• gnomAD v4: 12-108530358-C-T
• MyVariant Identifiers: chr12:g.108924135C>T (hg19) ; chr12:g.108530358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530358C>T , CM000674.2:g.108530358C>T	GRCh38
NC_000012.11:g.108924135C>T , CM000674.1:g.108924135C>T	GRCh37
NC_000012.10:g.107448265C>T	NCBI36
NG_012155.1:g.36031G>A
NG_012155.2:g.36032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228284.8:c.1801-48G>A	ENSP00000228284.4:n.1801-48G>A
ENST00000546815.6:c.1747-48G>A MANE Select	ENSP00000449386.2:n.1747-48G>A
ENST00000651280.1:c.*903-48G>A	ENSP00000498612.1:n.*903-48G>A
ENST00000228284.7:c.1747-48G>A	ENSP00000228284.3:n.1747-48G>A
ENST00000431469.6:c.1639-48G>A	ENSP00000414453.2:n.1639-48G>A
ENST00000546728.5:c.*641-48G>A	ENSP00000449743.1:n.*641-48G>A
ENST00000546815.5:c.1801-48G>A	ENSP00000449386.1:n.1801-48G>A
ENST00000547528.5:c.*911-48G>A	ENSP00000446577.1:n.*911-48G>A
ENST00000548582.5:n.474-48G>A
ENST00000619503.4:n.683-48G>A
NM_014706.3:c.1747-48G>A	NP_055521.1:n.1747-48G>A
XM_005269241.3:c.1801-48G>A	XP_005269298.1:n.1801-48G>A
XM_011539026.1:c.883-48G>A	XP_011537328.1:n.883-48G>A
NM_014706.4:c.1747-48G>A MANE Select	NP_055521.1:n.1747-48G>A
XM_005269241.5:c.1801-48G>A	XP_005269298.1:n.1801-48G>A
XM_024449284.1:c.883-48G>A	XP_024305052.1:n.883-48G>A