Canonical Allele Identifier: CA707983100

Gene: TMEM229B GPHN

Linked Data

• dbSNP Id: rs1464535633
• MyVariant Identifiers: chr14:g.67979631C>T (hg19) ; chr14:g.67512914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67512914C>T , CM000676.2:g.67512914C>T	GRCh38
NC_000014.8:g.67979631C>T , CM000676.1:g.67979631C>T	GRCh37
NC_000014.7:g.67049384C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357461.7:c.-192+2172G>A (TMEM229B)	ENSP00000350050.2:n.-192+2172G>A
ENST00000554278.6:c.-192+20722G>A (TMEM229B)	ENSP00000452402.2:n.-192+20722G>A
ENST00000555994.6:c.-257+2172G>A (TMEM229B)	ENSP00000452144.2:n.-257+2172G>A
ENST00000557006.6:c.-257+2531G>A (TMEM229B)	ENSP00000451774.1:n.-257+2531G>A
ENST00000357461.6:c.-192+2172G>A (TMEM229B)	ENSP00000350050.2:n.-192+2172G>A
ENST00000554278.5:c.-192+20722G>A (TMEM229B)	ENSP00000452402.1:n.-192+20722G>A
ENST00000555638.5:c.-192+2531G>A (TMEM229B)	ENSP00000452201.1:n.-192+2531G>A
ENST00000555994.5:c.-257+2172G>A (TMEM229B)	ENSP00000452144.1:n.-257+2172G>A
ENST00000557006.5:c.-257+2531G>A (TMEM229B)	ENSP00000451774.1:n.-257+2531G>A
ENST00000557779.1:c.-192+2172G>A (TMEM229B)	ENSP00000452025.1:n.-192+2172G>A
NM_182526.2:c.-192+2172G>A (TMEM229B)	NP_872332.1:n.-192+2172G>A
XM_005267374.3:c.-257+2531G>A (TMEM229B)	XP_005267431.1:n.-257+2531G>A
XM_005267375.2:c.-192+2531G>A (TMEM229B)	XP_005267432.1:n.-192+2531G>A
XM_006720062.2:c.-192+20722G>A (TMEM229B)	XP_006720125.1:n.-192+20722G>A
NM_001348544.1:c.-257+2172G>A (TMEM229B)	NP_001335473.1:n.-257+2172G>A
NM_001348546.1:c.-192+20848G>A (TMEM229B)	NP_001335475.1:n.-192+20848G>A
NM_001348547.1:c.-192+20722G>A (TMEM229B)	NP_001335476.1:n.-192+20722G>A
NM_001348548.1:c.-192+2531G>A (TMEM229B)	NP_001335477.1:n.-192+2531G>A
NM_001348549.1:c.-257+2531G>A (TMEM229B)	NP_001335478.1:n.-257+2531G>A
XM_017020925.2:c.1313-222281C>T (GPHN)	XP_016876414.1:n.1313-222281C>T
NM_001348544.2:c.-257+2172G>A (TMEM229B)	NP_001335473.1:n.-257+2172G>A
NM_001348547.2:c.-192+20722G>A (TMEM229B)	NP_001335476.1:n.-192+20722G>A
NM_001348548.2:c.-192+2531G>A (TMEM229B)	NP_001335477.1:n.-192+2531G>A
NM_001348549.2:c.-257+2531G>A (TMEM229B)	NP_001335478.1:n.-257+2531G>A
NM_001348546.2:c.-192+20848G>A (TMEM229B)	NP_001335475.1:n.-192+20848G>A
NM_182526.3:c.-192+2172G>A (TMEM229B)	NP_872332.1:n.-192+2172G>A