Canonical Allele Identifier: CA386436871

Gene: SART3

Linked Data

• gnomAD v4: 12-108530196-C-G
• MyVariant Identifiers: chr12:g.108923973C>G (hg19) ; chr12:g.108530196C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530196C>G , CM000674.2:g.108530196C>G	GRCh38
NC_000012.11:g.108923973C>G , CM000674.1:g.108923973C>G	GRCh37
NC_000012.10:g.107448103C>G	NCBI36
NG_012155.1:g.36193G>C
NG_012155.2:g.36194G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1915G>C	ENSP00000228284.4:p.Glu639Gln
ENST00000546815.6:c.1861G>C MANE Select	ENSP00000449386.2:p.Glu621Gln
ENST00000651280.1:c.*1017G>C	ENSP00000498612.1:n.*1017G>C
ENST00000228284.7:c.1861G>C	ENSP00000228284.3:p.Glu621Gln
ENST00000431469.6:c.1753G>C	ENSP00000414453.2:p.Glu585Gln
ENST00000546728.5:c.*755G>C	ENSP00000449743.1:n.*755G>C
ENST00000546815.5:c.1915G>C	ENSP00000449386.1:p.Glu639Gln
NM_014706.3:c.1861G>C	NP_055521.1:p.Glu621Gln
XM_005269241.3:c.1915G>C	XP_005269298.1:p.Glu639Gln
XM_011539026.1:c.997G>C	XP_011537328.1:p.Glu333Gln
NM_014706.4:c.1861G>C MANE Select	NP_055521.1:p.Glu621Gln
XM_005269241.5:c.1915G>C	XP_005269298.1:p.Glu639Gln
XM_024449284.1:c.997G>C	XP_024305052.1:p.Glu333Gln