Canonical Allele Identifier: CA386437493

Gene: SART3

Linked Data

• MyVariant Identifiers: chr12:g.108924076C>A (hg19) ; chr12:g.108530299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530299C>A , CM000674.2:g.108530299C>A	GRCh38
NC_000012.11:g.108924076C>A , CM000674.1:g.108924076C>A	GRCh37
NC_000012.10:g.107448206C>A	NCBI36
NG_012155.1:g.36090G>T
NG_012155.2:g.36091G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1812G>T	ENSP00000228284.4:p.Lys604Asn
ENST00000546815.6:c.1758G>T MANE Select	ENSP00000449386.2:p.Lys586Asn
ENST00000651280.1:c.*914G>T	ENSP00000498612.1:n.*914G>T
ENST00000228284.7:c.1758G>T	ENSP00000228284.3:p.Lys586Asn
ENST00000431469.6:c.1650G>T	ENSP00000414453.2:p.Lys550Asn
ENST00000546728.5:c.*652G>T	ENSP00000449743.1:n.*652G>T
ENST00000546815.5:c.1812G>T	ENSP00000449386.1:p.Lys604Asn
ENST00000547528.5:c.*922G>T	ENSP00000446577.1:n.*922G>T
ENST00000548582.5:n.485G>T
ENST00000619503.4:n.694G>T
NM_014706.3:c.1758G>T	NP_055521.1:p.Lys586Asn
XM_005269241.3:c.1812G>T	XP_005269298.1:p.Lys604Asn
XM_011539026.1:c.894G>T	XP_011537328.1:p.Lys298Asn
NM_014706.4:c.1758G>T MANE Select	NP_055521.1:p.Lys586Asn
XM_005269241.5:c.1812G>T	XP_005269298.1:p.Lys604Asn
XM_024449284.1:c.894G>T	XP_024305052.1:p.Lys298Asn