Canonical Allele Identifier: CA383457572

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880622-C-G
• MyVariant Identifiers: chr11:g.130750517C>G (hg19) ; chr11:g.130880622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880622C>G , CM000673.2:g.130880622C>G	GRCh38
NC_000011.9:g.130750517C>G , CM000673.1:g.130750517C>G	GRCh37
NC_000011.8:g.130255727C>G	NCBI36
NG_053190.1:g.40867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2758G>C MANE Select	ENSP00000265909.4:p.Asp920His
ENST00000265909.8:c.2758G>C	ENSP00000265909.4:p.Asp920His
ENST00000426933.6:c.262G>C	ENSP00000413345.2:p.Asp88His
ENST00000526579.5:n.178-911G>C
ENST00000527116.5:n.520G>C
ENST00000528555.5:c.898G>C	ENSP00000435122.1:p.Asp300His
ENST00000530330.1:n.494G>C
ENST00000530356.5:c.898G>C	ENSP00000432307.1:p.Asp300His
ENST00000533318.5:n.1118G>C
ENST00000534726.5:c.478G>C	ENSP00000433699.1:p.Asp160His
NM_001301089.1:c.898G>C	NP_001288018.1:p.Asp300His
NM_014758.2:c.2758G>C	NP_055573.2:p.Asp920His
XM_005271546.3:c.2574-911G>C	XP_005271603.1:n.2574-911G>C
XM_011542819.1:c.3004G>C	XP_011541121.1:p.Asp1002His
XM_011542820.1:c.2992G>C	XP_011541122.1:p.Asp998His
XM_011542821.1:c.2884G>C	XP_011541123.1:p.Asp962His
XM_011542824.1:c.2122G>C	XP_011541126.1:p.Asp708His
XM_011542825.1:c.1279G>C	XP_011541127.1:p.Asp427His
XM_011542826.1:c.1144G>C	XP_011541128.1:p.Asp382His
XM_011542827.1:c.1024G>C	XP_011541129.1:p.Asp342His
NM_001347918.1:c.2638G>C	NP_001334847.1:p.Asp880His
NM_001347919.1:c.2574-911G>C	NP_001334848.1:n.2574-911G>C
NM_001347922.1:c.1087G>C	NP_001334851.1:p.Asp363His
NM_001347923.1:c.1033G>C	NP_001334852.1:p.Asp345His
NM_001347924.1:c.778G>C	NP_001334853.1:p.Asp260His
NM_001347925.1:c.724G>C	NP_001334854.1:p.Asp242His
NM_001347926.1:c.714-911G>C	NP_001334855.1:n.714-911G>C
NM_001347927.1:c.478G>C	NP_001334856.1:p.Asp160His
NR_144939.1:n.3391G>C
XM_011542820.2:c.2992G>C	XP_011541122.1:p.Asp998His
XM_011542821.3:c.2884G>C	XP_011541123.1:p.Asp962His
XM_011542824.2:c.2122G>C	XP_011541126.1:p.Asp708His
XM_011542825.2:c.1279G>C	XP_011541127.1:p.Asp427His
XM_011542826.2:c.1144G>C	XP_011541128.1:p.Asp382His
XM_024448521.1:c.3004G>C	XP_024304289.1:p.Asp1002His
XR_001747870.1:n.3829G>C
XR_001747872.1:n.3175G>C
XR_001747873.1:n.3489G>C
NM_001301089.2:c.898G>C	NP_001288018.1:p.Asp300His
NM_001347918.2:c.2638G>C	NP_001334847.2:p.Asp880His
NM_001347919.2:c.2574-911G>C	NP_001334848.2:n.2574-911G>C
NM_001347920.2:c.*21154G>C	NP_001334849.2:n.*21154G>C
NM_001347922.2:c.1087G>C	NP_001334851.2:p.Asp363His
NM_001347923.2:c.1033G>C	NP_001334852.2:p.Asp345His
NM_001347924.2:c.778G>C	NP_001334853.1:p.Asp260His
NM_001347925.2:c.724G>C	NP_001334854.1:p.Asp242His
NM_001347926.2:c.714-911G>C	NP_001334855.1:n.714-911G>C
NM_001347927.2:c.478G>C	NP_001334856.1:p.Asp160His
NM_014758.3:c.2758G>C MANE Select	NP_055573.3:p.Asp920His
NR_144939.2:n.3383G>C