Canonical Allele Identifier: CA262253127

Gene: TMEM30B PRKCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61281002A>C , CM000676.2:g.61281002A>C	GRCh38
NC_000014.8:g.61747720A>C , CM000676.1:g.61747720A>C	GRCh37
NC_000014.7:g.60817473A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555868.2:c.146T>G (TMEM30B) MANE Select	ENSP00000450842.1:p.Leu49Arg
ENST00000554497.1:n.391T>G (TMEM30B)
ENST00000555185.5:c.-19+93334A>C (PRKCH)	ENSP00000451871.1:n.-19+93334A>C
ENST00000555542.5:c.-427A>C (PRKCH)	ENSP00000451789.1:n.-427A>C
ENST00000555868.1:c.146T>G (TMEM30B)	ENSP00000450842.1:p.Leu49Arg
ENST00000556778.5:c.-57+93334A>C (PRKCH)	ENSP00000452055.1:n.-57+93334A>C
ENST00000557163.1:n.180-47T>G (TMEM30B)
ENST00000557294.5:c.-108-40992A>C (PRKCH)	ENSP00000452129.1:n.-108-40992A>C
NM_001017970.2:c.146T>G (TMEM30B)	NP_001017970.1:p.Leu49Arg
XM_017021458.1:c.-427A>C (PRKCH)	XP_016876947.1:n.-427A>C
XM_024449661.1:c.-121+93334A>C (PRKCH)	XP_024305429.1:n.-121+93334A>C
NM_001017970.3:c.146T>G (TMEM30B) MANE Select	NP_001017970.1:p.Leu49Arg