Canonical Allele Identifier: CA383457667

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880664-C-T
• MyVariant Identifiers: chr11:g.130750559C>T (hg19) ; chr11:g.130880664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880664C>T , CM000673.2:g.130880664C>T	GRCh38
NC_000011.9:g.130750559C>T , CM000673.1:g.130750559C>T	GRCh37
NC_000011.8:g.130255769C>T	NCBI36
NG_053190.1:g.40825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2716G>A MANE Select	ENSP00000265909.4:p.Ala906Thr
ENST00000265909.8:c.2716G>A	ENSP00000265909.4:p.Ala906Thr
ENST00000426933.6:c.220G>A	ENSP00000413345.2:p.Ala74Thr
ENST00000526579.5:n.178-953G>A
ENST00000527116.5:n.478G>A
ENST00000528555.5:c.856G>A	ENSP00000435122.1:p.Ala286Thr
ENST00000530330.1:n.452G>A
ENST00000530356.5:c.856G>A	ENSP00000432307.1:p.Ala286Thr
ENST00000533318.5:n.1076G>A
ENST00000534726.5:c.436G>A	ENSP00000433699.1:p.Ala146Thr
NM_001301089.1:c.856G>A	NP_001288018.1:p.Ala286Thr
NM_014758.2:c.2716G>A	NP_055573.2:p.Ala906Thr
XM_005271546.3:c.2574-953G>A	XP_005271603.1:n.2574-953G>A
XM_011542819.1:c.2962G>A	XP_011541121.1:p.Ala988Thr
XM_011542820.1:c.2950G>A	XP_011541122.1:p.Ala984Thr
XM_011542821.1:c.2842G>A	XP_011541123.1:p.Ala948Thr
XM_011542824.1:c.2080G>A	XP_011541126.1:p.Ala694Thr
XM_011542825.1:c.1237G>A	XP_011541127.1:p.Ala413Thr
XM_011542826.1:c.1102G>A	XP_011541128.1:p.Ala368Thr
XM_011542827.1:c.982G>A	XP_011541129.1:p.Ala328Thr
NM_001347918.1:c.2596G>A	NP_001334847.1:p.Ala866Thr
NM_001347919.1:c.2574-953G>A	NP_001334848.1:n.2574-953G>A
NM_001347922.1:c.1045G>A	NP_001334851.1:p.Ala349Thr
NM_001347923.1:c.991G>A	NP_001334852.1:p.Ala331Thr
NM_001347924.1:c.736G>A	NP_001334853.1:p.Ala246Thr
NM_001347925.1:c.682G>A	NP_001334854.1:p.Ala228Thr
NM_001347926.1:c.714-953G>A	NP_001334855.1:n.714-953G>A
NM_001347927.1:c.436G>A	NP_001334856.1:p.Ala146Thr
NR_144939.1:n.3349G>A
XM_011542820.2:c.2950G>A	XP_011541122.1:p.Ala984Thr
XM_011542821.3:c.2842G>A	XP_011541123.1:p.Ala948Thr
XM_011542824.2:c.2080G>A	XP_011541126.1:p.Ala694Thr
XM_011542825.2:c.1237G>A	XP_011541127.1:p.Ala413Thr
XM_011542826.2:c.1102G>A	XP_011541128.1:p.Ala368Thr
XM_024448521.1:c.2962G>A	XP_024304289.1:p.Ala988Thr
XR_001747870.1:n.3787G>A
XR_001747872.1:n.3133G>A
XR_001747873.1:n.3447G>A
NM_001301089.2:c.856G>A	NP_001288018.1:p.Ala286Thr
NM_001347918.2:c.2596G>A	NP_001334847.2:p.Ala866Thr
NM_001347919.2:c.2574-953G>A	NP_001334848.2:n.2574-953G>A
NM_001347920.2:c.*21112G>A	NP_001334849.2:n.*21112G>A
NM_001347922.2:c.1045G>A	NP_001334851.2:p.Ala349Thr
NM_001347923.2:c.991G>A	NP_001334852.2:p.Ala331Thr
NM_001347924.2:c.736G>A	NP_001334853.1:p.Ala246Thr
NM_001347925.2:c.682G>A	NP_001334854.1:p.Ala228Thr
NM_001347926.2:c.714-953G>A	NP_001334855.1:n.714-953G>A
NM_001347927.2:c.436G>A	NP_001334856.1:p.Ala146Thr
NM_014758.3:c.2716G>A MANE Select	NP_055573.3:p.Ala906Thr
NR_144939.2:n.3341G>A