Canonical Allele Identifier: CA477582251
Gene: SNX19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.130750533C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.130880638C>G , CM000673.2:g.130880638C>G GRCh38
NC_000011.9:g.130750533C>G , CM000673.1:g.130750533C>G GRCh37
NC_000011.8:g.130255743C>G NCBI36
NG_053190.1:g.40851G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265909.9:c.2742G>C MANE Select ENSP00000265909.4:p.Leu914=
ENST00000265909.8:c.2742G>C ENSP00000265909.4:p.Leu914=
ENST00000426933.6:c.246G>C ENSP00000413345.2:p.Leu82=
ENST00000526579.5:n.178-927G>C
ENST00000527116.5:n.504G>C
ENST00000528555.5:c.882G>C ENSP00000435122.1:p.Leu294=
ENST00000530330.1:n.478G>C
ENST00000530356.5:c.882G>C ENSP00000432307.1:p.Leu294=
ENST00000533318.5:n.1102G>C
ENST00000534726.5:c.462G>C ENSP00000433699.1:p.Leu154=
NM_001301089.1:c.882G>C NP_001288018.1:p.Leu294=
NM_014758.2:c.2742G>C NP_055573.2:p.Leu914=
XM_005271546.3:c.2574-927G>C XP_005271603.1:n.2574-927G>C
XM_011542819.1:c.2988G>C XP_011541121.1:p.Leu996=
XM_011542820.1:c.2976G>C XP_011541122.1:p.Leu992=
XM_011542821.1:c.2868G>C XP_011541123.1:p.Leu956=
XM_011542824.1:c.2106G>C XP_011541126.1:p.Leu702=
XM_011542825.1:c.1263G>C XP_011541127.1:p.Leu421=
XM_011542826.1:c.1128G>C XP_011541128.1:p.Leu376=
XM_011542827.1:c.1008G>C XP_011541129.1:p.Leu336=
NM_001347918.1:c.2622G>C NP_001334847.1:p.Leu874=
NM_001347919.1:c.2574-927G>C NP_001334848.1:n.2574-927G>C
NM_001347922.1:c.1071G>C NP_001334851.1:p.Leu357=
NM_001347923.1:c.1017G>C NP_001334852.1:p.Leu339=
NM_001347924.1:c.762G>C NP_001334853.1:p.Leu254=
NM_001347925.1:c.708G>C NP_001334854.1:p.Leu236=
NM_001347926.1:c.714-927G>C NP_001334855.1:n.714-927G>C
NM_001347927.1:c.462G>C NP_001334856.1:p.Leu154=
NR_144939.1:n.3375G>C
XM_011542820.2:c.2976G>C XP_011541122.1:p.Leu992=
XM_011542821.3:c.2868G>C XP_011541123.1:p.Leu956=
XM_011542824.2:c.2106G>C XP_011541126.1:p.Leu702=
XM_011542825.2:c.1263G>C XP_011541127.1:p.Leu421=
XM_011542826.2:c.1128G>C XP_011541128.1:p.Leu376=
XM_024448521.1:c.2988G>C XP_024304289.1:p.Leu996=
XR_001747870.1:n.3813G>C
XR_001747872.1:n.3159G>C
XR_001747873.1:n.3473G>C
NM_001301089.2:c.882G>C NP_001288018.1:p.Leu294=
NM_001347918.2:c.2622G>C NP_001334847.2:p.Leu874=
NM_001347919.2:c.2574-927G>C NP_001334848.2:n.2574-927G>C
NM_001347920.2:c.*21138G>C NP_001334849.2:n.*21138G>C
NM_001347922.2:c.1071G>C NP_001334851.2:p.Leu357=
NM_001347923.2:c.1017G>C NP_001334852.2:p.Leu339=
NM_001347924.2:c.762G>C NP_001334853.1:p.Leu254=
NM_001347925.2:c.708G>C NP_001334854.1:p.Leu236=
NM_001347926.2:c.714-927G>C NP_001334855.1:n.714-927G>C
NM_001347927.2:c.462G>C NP_001334856.1:p.Leu154=
NM_014758.3:c.2742G>C MANE Select NP_055573.3:p.Leu914=
NR_144939.2:n.3367G>C