Canonical Allele Identifier: CA383457587

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880630-A-G
• MyVariant Identifiers: chr11:g.130750525A>G (hg19) ; chr11:g.130880630A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880630A>G , CM000673.2:g.130880630A>G	GRCh38
NC_000011.9:g.130750525A>G , CM000673.1:g.130750525A>G	GRCh37
NC_000011.8:g.130255735A>G	NCBI36
NG_053190.1:g.40859T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2750T>C MANE Select	ENSP00000265909.4:p.Val917Ala
ENST00000265909.8:c.2750T>C	ENSP00000265909.4:p.Val917Ala
ENST00000426933.6:c.254T>C	ENSP00000413345.2:p.Val85Ala
ENST00000526579.5:n.178-919T>C
ENST00000527116.5:n.512T>C
ENST00000528555.5:c.890T>C	ENSP00000435122.1:p.Val297Ala
ENST00000530330.1:n.486T>C
ENST00000530356.5:c.890T>C	ENSP00000432307.1:p.Val297Ala
ENST00000533318.5:n.1110T>C
ENST00000534726.5:c.470T>C	ENSP00000433699.1:p.Val157Ala
NM_001301089.1:c.890T>C	NP_001288018.1:p.Val297Ala
NM_014758.2:c.2750T>C	NP_055573.2:p.Val917Ala
XM_005271546.3:c.2574-919T>C	XP_005271603.1:n.2574-919T>C
XM_011542819.1:c.2996T>C	XP_011541121.1:p.Val999Ala
XM_011542820.1:c.2984T>C	XP_011541122.1:p.Val995Ala
XM_011542821.1:c.2876T>C	XP_011541123.1:p.Val959Ala
XM_011542824.1:c.2114T>C	XP_011541126.1:p.Val705Ala
XM_011542825.1:c.1271T>C	XP_011541127.1:p.Val424Ala
XM_011542826.1:c.1136T>C	XP_011541128.1:p.Val379Ala
XM_011542827.1:c.1016T>C	XP_011541129.1:p.Val339Ala
NM_001347918.1:c.2630T>C	NP_001334847.1:p.Val877Ala
NM_001347919.1:c.2574-919T>C	NP_001334848.1:n.2574-919T>C
NM_001347922.1:c.1079T>C	NP_001334851.1:p.Val360Ala
NM_001347923.1:c.1025T>C	NP_001334852.1:p.Val342Ala
NM_001347924.1:c.770T>C	NP_001334853.1:p.Val257Ala
NM_001347925.1:c.716T>C	NP_001334854.1:p.Val239Ala
NM_001347926.1:c.714-919T>C	NP_001334855.1:n.714-919T>C
NM_001347927.1:c.470T>C	NP_001334856.1:p.Val157Ala
NR_144939.1:n.3383T>C
XM_011542820.2:c.2984T>C	XP_011541122.1:p.Val995Ala
XM_011542821.3:c.2876T>C	XP_011541123.1:p.Val959Ala
XM_011542824.2:c.2114T>C	XP_011541126.1:p.Val705Ala
XM_011542825.2:c.1271T>C	XP_011541127.1:p.Val424Ala
XM_011542826.2:c.1136T>C	XP_011541128.1:p.Val379Ala
XM_024448521.1:c.2996T>C	XP_024304289.1:p.Val999Ala
XR_001747870.1:n.3821T>C
XR_001747872.1:n.3167T>C
XR_001747873.1:n.3481T>C
NM_001301089.2:c.890T>C	NP_001288018.1:p.Val297Ala
NM_001347918.2:c.2630T>C	NP_001334847.2:p.Val877Ala
NM_001347919.2:c.2574-919T>C	NP_001334848.2:n.2574-919T>C
NM_001347920.2:c.*21146T>C	NP_001334849.2:n.*21146T>C
NM_001347922.2:c.1079T>C	NP_001334851.2:p.Val360Ala
NM_001347923.2:c.1025T>C	NP_001334852.2:p.Val342Ala
NM_001347924.2:c.770T>C	NP_001334853.1:p.Val257Ala
NM_001347925.2:c.716T>C	NP_001334854.1:p.Val239Ala
NM_001347926.2:c.714-919T>C	NP_001334855.1:n.714-919T>C
NM_001347927.2:c.470T>C	NP_001334856.1:p.Val157Ala
NM_014758.3:c.2750T>C MANE Select	NP_055573.3:p.Val917Ala
NR_144939.2:n.3375T>C