Canonical Allele Identifier: CA386436835

Gene: SART3

Linked Data

• MyVariant Identifiers: chr12:g.108923968C>A (hg19) ; chr12:g.108530191C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530191C>A , CM000674.2:g.108530191C>A	GRCh38
NC_000012.11:g.108923968C>A , CM000674.1:g.108923968C>A	GRCh37
NC_000012.10:g.107448098C>A	NCBI36
NG_012155.1:g.36198G>T
NG_012155.2:g.36199G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1920G>T	ENSP00000228284.4:p.Lys640Asn
ENST00000546815.6:c.1866G>T MANE Select	ENSP00000449386.2:p.Lys622Asn
ENST00000651280.1:c.*1022G>T	ENSP00000498612.1:n.*1022G>T
ENST00000228284.7:c.1866G>T	ENSP00000228284.3:p.Lys622Asn
ENST00000431469.6:c.1758G>T	ENSP00000414453.2:p.Lys586Asn
ENST00000546728.5:c.*760G>T	ENSP00000449743.1:n.*760G>T
ENST00000546815.5:c.1920G>T	ENSP00000449386.1:p.Lys640Asn
NM_014706.3:c.1866G>T	NP_055521.1:p.Lys622Asn
XM_005269241.3:c.1920G>T	XP_005269298.1:p.Lys640Asn
XM_011539026.1:c.1002G>T	XP_011537328.1:p.Lys334Asn
NM_014706.4:c.1866G>T MANE Select	NP_055521.1:p.Lys622Asn
XM_005269241.5:c.1920G>T	XP_005269298.1:p.Lys640Asn
XM_024449284.1:c.1002G>T	XP_024305052.1:p.Lys334Asn