Canonical Allele Identifier: CA2595026486

Gene: TMEM229B GPHN

Linked Data

• dbSNP Id: rs2140233078
• gnomAD v3: 14-67509009-G-A
• gnomAD v4: 14-67509009-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67509009G>A , CM000676.2:g.67509009G>A	GRCh38
NC_000014.8:g.67975726G>A , CM000676.1:g.67975726G>A	GRCh37
NC_000014.7:g.67045479G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357461.7:c.-192+6077C>T (TMEM229B)	ENSP00000350050.2:n.-192+6077C>T
ENST00000554278.6:c.-191-21837C>T (TMEM229B)	ENSP00000452402.2:n.-191-21837C>T
ENST00000555994.6:c.-256-5458C>T (TMEM229B)	ENSP00000452144.2:n.-256-5458C>T
ENST00000557006.6:c.-256-5458C>T (TMEM229B)	ENSP00000451774.1:n.-256-5458C>T
ENST00000357461.6:c.-192+6077C>T (TMEM229B)	ENSP00000350050.2:n.-192+6077C>T
ENST00000554278.5:c.-191-21837C>T (TMEM229B)	ENSP00000452402.1:n.-191-21837C>T
ENST00000555638.5:c.-192+6436C>T (TMEM229B)	ENSP00000452201.1:n.-192+6436C>T
ENST00000555994.5:c.-256-5458C>T (TMEM229B)	ENSP00000452144.1:n.-256-5458C>T
ENST00000557006.5:c.-256-5458C>T (TMEM229B)	ENSP00000451774.1:n.-256-5458C>T
ENST00000557779.1:c.-192+6077C>T (TMEM229B)	ENSP00000452025.1:n.-192+6077C>T
NM_182526.2:c.-192+6077C>T (TMEM229B)	NP_872332.1:n.-192+6077C>T
XM_005267374.3:c.-256-5458C>T (TMEM229B)	XP_005267431.1:n.-256-5458C>T
XM_005267375.2:c.-192+6436C>T (TMEM229B)	XP_005267432.1:n.-192+6436C>T
XM_006720062.2:c.-191-21837C>T (TMEM229B)	XP_006720125.1:n.-191-21837C>T
NM_001348544.1:c.-256-5458C>T (TMEM229B)	NP_001335473.1:n.-256-5458C>T
NM_001348546.1:c.-191-21837C>T (TMEM229B)	NP_001335475.1:n.-191-21837C>T
NM_001348547.1:c.-191-21837C>T (TMEM229B)	NP_001335476.1:n.-191-21837C>T
NM_001348548.1:c.-192+6436C>T (TMEM229B)	NP_001335477.1:n.-192+6436C>T
NM_001348549.1:c.-256-5458C>T (TMEM229B)	NP_001335478.1:n.-256-5458C>T
XM_017020925.2:c.1313-226186G>A (GPHN)	XP_016876414.1:n.1313-226186G>A
NM_001348544.2:c.-256-5458C>T (TMEM229B)	NP_001335473.1:n.-256-5458C>T
NM_001348547.2:c.-191-21837C>T (TMEM229B)	NP_001335476.1:n.-191-21837C>T
NM_001348548.2:c.-192+6436C>T (TMEM229B)	NP_001335477.1:n.-192+6436C>T
NM_001348549.2:c.-256-5458C>T (TMEM229B)	NP_001335478.1:n.-256-5458C>T
NM_001348546.2:c.-191-21837C>T (TMEM229B)	NP_001335475.1:n.-191-21837C>T
NM_182526.3:c.-192+6077C>T (TMEM229B)	NP_872332.1:n.-192+6077C>T