Canonical Allele Identifier: CA386437431

Gene: SART3

Linked Data

• MyVariant Identifiers: chr12:g.108924065A>C (hg19) ; chr12:g.108530288A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530288A>C , CM000674.2:g.108530288A>C	GRCh38
NC_000012.11:g.108924065A>C , CM000674.1:g.108924065A>C	GRCh37
NC_000012.10:g.107448195A>C	NCBI36
NG_012155.1:g.36101T>G
NG_012155.2:g.36102T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1823T>G	ENSP00000228284.4:p.Leu608Arg
ENST00000546815.6:c.1769T>G MANE Select	ENSP00000449386.2:p.Leu590Arg
ENST00000651280.1:c.*925T>G	ENSP00000498612.1:n.*925T>G
ENST00000228284.7:c.1769T>G	ENSP00000228284.3:p.Leu590Arg
ENST00000431469.6:c.1661T>G	ENSP00000414453.2:p.Leu554Arg
ENST00000546728.5:c.*663T>G	ENSP00000449743.1:n.*663T>G
ENST00000546815.5:c.1823T>G	ENSP00000449386.1:p.Leu608Arg
ENST00000547528.5:c.*933T>G	ENSP00000446577.1:n.*933T>G
ENST00000548582.5:n.496T>G
ENST00000619503.4:n.705T>G
NM_014706.3:c.1769T>G	NP_055521.1:p.Leu590Arg
XM_005269241.3:c.1823T>G	XP_005269298.1:p.Leu608Arg
XM_011539026.1:c.905T>G	XP_011537328.1:p.Leu302Arg
NM_014706.4:c.1769T>G MANE Select	NP_055521.1:p.Leu590Arg
XM_005269241.5:c.1823T>G	XP_005269298.1:p.Leu608Arg
XM_024449284.1:c.905T>G	XP_024305052.1:p.Leu302Arg