Canonical Allele Identifier: CA383457860

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880759-A-G
• MyVariant Identifiers: chr11:g.130750654A>G (hg19) ; chr11:g.130880759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880759A>G , CM000673.2:g.130880759A>G	GRCh38
NC_000011.9:g.130750654A>G , CM000673.1:g.130750654A>G	GRCh37
NC_000011.8:g.130255864A>G	NCBI36
NG_053190.1:g.40730T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265909.9:c.2621T>C MANE Select	ENSP00000265909.4:p.Val874Ala
ENST00000265909.8:c.2621T>C	ENSP00000265909.4:p.Val874Ala
ENST00000426933.6:c.125T>C	ENSP00000413345.2:p.Val42Ala
ENST00000526579.5:n.178-1048T>C
ENST00000527116.5:n.383T>C
ENST00000528555.5:c.761T>C	ENSP00000435122.1:p.Val254Ala
ENST00000530330.1:n.357T>C
ENST00000530356.5:c.761T>C	ENSP00000432307.1:p.Val254Ala
ENST00000533318.5:n.981T>C
ENST00000534726.5:c.341T>C	ENSP00000433699.1:p.Val114Ala
NM_001301089.1:c.761T>C	NP_001288018.1:p.Val254Ala
NM_014758.2:c.2621T>C	NP_055573.2:p.Val874Ala
XM_005271546.3:c.2574-1048T>C	XP_005271603.1:n.2574-1048T>C
XM_011542819.1:c.2867T>C	XP_011541121.1:p.Val956Ala
XM_011542820.1:c.2855T>C	XP_011541122.1:p.Val952Ala
XM_011542821.1:c.2747T>C	XP_011541123.1:p.Val916Ala
XM_011542824.1:c.1985T>C	XP_011541126.1:p.Val662Ala
XM_011542825.1:c.1142T>C	XP_011541127.1:p.Val381Ala
XM_011542826.1:c.1007T>C	XP_011541128.1:p.Val336Ala
XM_011542827.1:c.887T>C	XP_011541129.1:p.Val296Ala
NM_001347918.1:c.2501T>C	NP_001334847.1:p.Val834Ala
NM_001347919.1:c.2574-1048T>C	NP_001334848.1:n.2574-1048T>C
NM_001347922.1:c.950T>C	NP_001334851.1:p.Val317Ala
NM_001347923.1:c.896T>C	NP_001334852.1:p.Val299Ala
NM_001347924.1:c.641T>C	NP_001334853.1:p.Val214Ala
NM_001347925.1:c.587T>C	NP_001334854.1:p.Val196Ala
NM_001347926.1:c.714-1048T>C	NP_001334855.1:n.714-1048T>C
NM_001347927.1:c.341T>C	NP_001334856.1:p.Val114Ala
NR_144939.1:n.3254T>C
XM_011542820.2:c.2855T>C	XP_011541122.1:p.Val952Ala
XM_011542821.3:c.2747T>C	XP_011541123.1:p.Val916Ala
XM_011542824.2:c.1985T>C	XP_011541126.1:p.Val662Ala
XM_011542825.2:c.1142T>C	XP_011541127.1:p.Val381Ala
XM_011542826.2:c.1007T>C	XP_011541128.1:p.Val336Ala
XM_024448521.1:c.2867T>C	XP_024304289.1:p.Val956Ala
XR_001747870.1:n.3692T>C
XR_001747872.1:n.3038T>C
XR_001747873.1:n.3352T>C
NM_001301089.2:c.761T>C	NP_001288018.1:p.Val254Ala
NM_001347918.2:c.2501T>C	NP_001334847.2:p.Val834Ala
NM_001347919.2:c.2574-1048T>C	NP_001334848.2:n.2574-1048T>C
NM_001347920.2:c.*21017T>C	NP_001334849.2:n.*21017T>C
NM_001347922.2:c.950T>C	NP_001334851.2:p.Val317Ala
NM_001347923.2:c.896T>C	NP_001334852.2:p.Val299Ala
NM_001347924.2:c.641T>C	NP_001334853.1:p.Val214Ala
NM_001347925.2:c.587T>C	NP_001334854.1:p.Val196Ala
NM_001347926.2:c.714-1048T>C	NP_001334855.1:n.714-1048T>C
NM_001347927.2:c.341T>C	NP_001334856.1:p.Val114Ala
NM_014758.3:c.2621T>C MANE Select	NP_055573.3:p.Val874Ala
NR_144939.2:n.3246T>C