Canonical Allele Identifier: CA386437423

Gene: SART3

Linked Data

• MyVariant Identifiers: chr12:g.108924063C>G (hg19) ; chr12:g.108530286C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530286C>G , CM000674.2:g.108530286C>G	GRCh38
NC_000012.11:g.108924063C>G , CM000674.1:g.108924063C>G	GRCh37
NC_000012.10:g.107448193C>G	NCBI36
NG_012155.1:g.36103G>C
NG_012155.2:g.36104G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1825G>C	ENSP00000228284.4:p.Val609Leu
ENST00000546815.6:c.1771G>C MANE Select	ENSP00000449386.2:p.Val591Leu
ENST00000651280.1:c.*927G>C	ENSP00000498612.1:n.*927G>C
ENST00000228284.7:c.1771G>C	ENSP00000228284.3:p.Val591Leu
ENST00000431469.6:c.1663G>C	ENSP00000414453.2:p.Val555Leu
ENST00000546728.5:c.*665G>C	ENSP00000449743.1:n.*665G>C
ENST00000546815.5:c.1825G>C	ENSP00000449386.1:p.Val609Leu
ENST00000547528.5:c.*935G>C	ENSP00000446577.1:n.*935G>C
ENST00000548582.5:n.498G>C
ENST00000619503.4:n.707G>C
NM_014706.3:c.1771G>C	NP_055521.1:p.Val591Leu
XM_005269241.3:c.1825G>C	XP_005269298.1:p.Val609Leu
XM_011539026.1:c.907G>C	XP_011537328.1:p.Val303Leu
NM_014706.4:c.1771G>C MANE Select	NP_055521.1:p.Val591Leu
XM_005269241.5:c.1825G>C	XP_005269298.1:p.Val609Leu
XM_024449284.1:c.907G>C	XP_024305052.1:p.Val303Leu