Canonical Allele Identifier: CA2739521016
Gene: ZSWIM7 HGNC NCBI
TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999486A>C , CM000679.2:g.15999486A>C GRCh38
NC_000017.10:g.15902800A>C , CM000679.1:g.15902800A>C GRCh37
NC_000017.9:g.15843525A>C NCBI36
NG_029806.1:g.5107A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399277.6:c.76+33T>G (ZSWIM7) MANE Select ENSP00000382218.1:n.76+33T>G
ENST00000261647.9:c.-363A>C (TTC19) ENSP00000261647.5:n.-363A>C
ENST00000399277.5:c.76+33T>G (ZSWIM7) ENSP00000382218.1:n.76+33T>G
ENST00000399280.6:n.35+174T>G (ZSWIM7)
ENST00000460252.5:c.92+17T>G (ZSWIM7) ENSP00000464463.1:n.92+17T>G
ENST00000460315.5:c.92+17T>G (ZSWIM7) ENSP00000462590.1:n.92+17T>G
ENST00000472495.5:c.76+33T>G (ZSWIM7) ENSP00000419138.1:n.76+33T>G
ENST00000474716.5:c.89+20T>G (ZSWIM7) ENSP00000464500.1:n.89+20T>G
ENST00000476496.5:c.86+17T>G (ZSWIM7) ENSP00000462208.1:n.86+17T>G
ENST00000486655.5:c.31+33T>G (ZSWIM7) ENSP00000464371.1:n.31+33T>G
ENST00000486706.6:c.89+20T>G (ZSWIM7) ENSP00000463327.1:n.89+20T>G
ENST00000490395.5:c.89+20T>G (ZSWIM7) ENSP00000464605.1:n.89+20T>G
ENST00000491631.5:c.89+20T>G (ZSWIM7) ENSP00000462598.1:n.89+20T>G
ENST00000495825.6:n.24+174T>G (ZSWIM7)
ENST00000497719.5:n.54+174T>G (ZSWIM7)
ENST00000579955.1:c.89+20T>G (ZSWIM7) ENSP00000463444.1:n.89+20T>G
ENST00000584519.5:c.76+33T>G (ZSWIM7) ENSP00000463592.1:n.76+33T>G
ENST00000585208.5:c.89+20T>G (ZSWIM7) ENSP00000464227.1:n.89+20T>G
NM_001042697.1:c.76+33T>G (ZSWIM7) NP_001036162.1:n.76+33T>G
NM_001042698.1:c.76+33T>G (ZSWIM7) NP_001036163.1:n.76+33T>G
NM_001271420.1:c.-821A>C (TTC19) NP_001258349.1:n.-821A>C
NM_017775.3:c.-363A>C (TTC19) NP_060245.3:n.-363A>C
NM_001042697.2:c.76+33T>G (ZSWIM7) MANE Select NP_001036162.1:n.76+33T>G
NM_001042698.2:c.76+33T>G (ZSWIM7) NP_001036163.1:n.76+33T>G