Canonical Allele Identifier: CA13941455
Gene: TMEM229B HGNC NCBI
GPHN HGNC NCBI

Linked Data

dbSNP Id: rs1077989

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67509105A>C , CM000676.2:g.67509105A>C GRCh38
NC_000014.8:g.67975822A>C , CM000676.1:g.67975822A>C GRCh37
NC_000014.7:g.67045575A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000357461.6:c.-192+5981T>G ENSP00000350050.2:p.=
ENST00000554278.5:c.-191-21933T>G ENSP00000452402.1:p.=
ENST00000555638.5:c.-192+6340T>G ENSP00000452201.1:p.=
ENST00000555994.5:c.-256-5554T>G ENSP00000452144.1:p.=
ENST00000557006.5:c.-256-5554T>G ENSP00000451774.1:p.=
ENST00000557779.1:c.-192+5981T>G ENSP00000452025.1:p.=
NM_182526.2:c.-192+5981T>G (TMEM229B) NP_872332.1:p.=
XM_005267374.3:c.-256-5554T>G (TMEM229B) XP_005267431.1:p.=
XM_005267375.2:c.-192+6340T>G (TMEM229B) XP_005267432.1:p.=
XM_006720062.2:c.-191-21933T>G (TMEM229B) XP_006720125.1:p.=
NM_001348544.1:c.-256-5554T>G (TMEM229B) NP_001335473.1:p.=
NM_001348546.1:c.-191-21933T>G (TMEM229B) NP_001335475.1:p.=
NM_001348547.1:c.-191-21933T>G (TMEM229B) NP_001335476.1:p.=
NM_001348548.1:c.-192+6340T>G (TMEM229B) NP_001335477.1:p.=
NM_001348549.1:c.-256-5554T>G (TMEM229B) NP_001335478.1:p.=
XM_017020925.2:c.1313-226090A>C (GPHN) XP_016876414.1:p.=
NM_001348544.2:c.-256-5554T>G (TMEM229B) NP_001335473.1:p.=
NM_001348547.2:c.-191-21933T>G (TMEM229B) NP_001335476.1:p.=
NM_001348548.2:c.-192+6340T>G (TMEM229B) NP_001335477.1:p.=
NM_001348549.2:c.-256-5554T>G (TMEM229B) NP_001335478.1:p.=
NM_001348546.2:c.-191-21933T>G (TMEM229B) NP_001335475.1:p.=
NM_182526.3:c.-192+5981T>G (TMEM229B) NP_872332.1:p.=