Canonical Allele Identifier: CA383457853

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880755-C-G
• MyVariant Identifiers: chr11:g.130750650C>G (hg19) ; chr11:g.130880755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880755C>G , CM000673.2:g.130880755C>G	GRCh38
NC_000011.9:g.130750650C>G , CM000673.1:g.130750650C>G	GRCh37
NC_000011.8:g.130255860C>G	NCBI36
NG_053190.1:g.40734G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265909.9:c.2625G>C MANE Select	ENSP00000265909.4:p.Gln875His
ENST00000265909.8:c.2625G>C	ENSP00000265909.4:p.Gln875His
ENST00000426933.6:c.129G>C	ENSP00000413345.2:p.Gln43His
ENST00000526579.5:n.178-1044G>C
ENST00000527116.5:n.387G>C
ENST00000528555.5:c.765G>C	ENSP00000435122.1:p.Gln255His
ENST00000530330.1:n.361G>C
ENST00000530356.5:c.765G>C	ENSP00000432307.1:p.Gln255His
ENST00000533318.5:n.985G>C
ENST00000534726.5:c.345G>C	ENSP00000433699.1:p.Gln115His
NM_001301089.1:c.765G>C	NP_001288018.1:p.Gln255His
NM_014758.2:c.2625G>C	NP_055573.2:p.Gln875His
XM_005271546.3:c.2574-1044G>C	XP_005271603.1:n.2574-1044G>C
XM_011542819.1:c.2871G>C	XP_011541121.1:p.Gln957His
XM_011542820.1:c.2859G>C	XP_011541122.1:p.Gln953His
XM_011542821.1:c.2751G>C	XP_011541123.1:p.Gln917His
XM_011542824.1:c.1989G>C	XP_011541126.1:p.Gln663His
XM_011542825.1:c.1146G>C	XP_011541127.1:p.Gln382His
XM_011542826.1:c.1011G>C	XP_011541128.1:p.Gln337His
XM_011542827.1:c.891G>C	XP_011541129.1:p.Gln297His
NM_001347918.1:c.2505G>C	NP_001334847.1:p.Gln835His
NM_001347919.1:c.2574-1044G>C	NP_001334848.1:n.2574-1044G>C
NM_001347922.1:c.954G>C	NP_001334851.1:p.Gln318His
NM_001347923.1:c.900G>C	NP_001334852.1:p.Gln300His
NM_001347924.1:c.645G>C	NP_001334853.1:p.Gln215His
NM_001347925.1:c.591G>C	NP_001334854.1:p.Gln197His
NM_001347926.1:c.714-1044G>C	NP_001334855.1:n.714-1044G>C
NM_001347927.1:c.345G>C	NP_001334856.1:p.Gln115His
NR_144939.1:n.3258G>C
XM_011542820.2:c.2859G>C	XP_011541122.1:p.Gln953His
XM_011542821.3:c.2751G>C	XP_011541123.1:p.Gln917His
XM_011542824.2:c.1989G>C	XP_011541126.1:p.Gln663His
XM_011542825.2:c.1146G>C	XP_011541127.1:p.Gln382His
XM_011542826.2:c.1011G>C	XP_011541128.1:p.Gln337His
XM_024448521.1:c.2871G>C	XP_024304289.1:p.Gln957His
XR_001747870.1:n.3696G>C
XR_001747872.1:n.3042G>C
XR_001747873.1:n.3356G>C
NM_001301089.2:c.765G>C	NP_001288018.1:p.Gln255His
NM_001347918.2:c.2505G>C	NP_001334847.2:p.Gln835His
NM_001347919.2:c.2574-1044G>C	NP_001334848.2:n.2574-1044G>C
NM_001347920.2:c.*21021G>C	NP_001334849.2:n.*21021G>C
NM_001347922.2:c.954G>C	NP_001334851.2:p.Gln318His
NM_001347923.2:c.900G>C	NP_001334852.2:p.Gln300His
NM_001347924.2:c.645G>C	NP_001334853.1:p.Gln215His
NM_001347925.2:c.591G>C	NP_001334854.1:p.Gln197His
NM_001347926.2:c.714-1044G>C	NP_001334855.1:n.714-1044G>C
NM_001347927.2:c.345G>C	NP_001334856.1:p.Gln115His
NM_014758.3:c.2625G>C MANE Select	NP_055573.3:p.Gln875His
NR_144939.2:n.3250G>C