Canonical Allele Identifier: CA7214812

Gene: TMEM30B PRKCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61280321G>A , CM000676.2:g.61280321G>A	GRCh38
NC_000014.8:g.61747039G>A , CM000676.1:g.61747039G>A	GRCh37
NC_000014.7:g.60816792G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555868.2:c.827C>T (TMEM30B) MANE Select	ENSP00000450842.1:p.Ala276Val
ENST00000555185.5:c.-19+92653G>A (PRKCH)	ENSP00000451871.1:n.-19+92653G>A
ENST00000555868.1:c.827C>T (TMEM30B)	ENSP00000450842.1:p.Ala276Val
ENST00000556778.5:c.-57+92653G>A (PRKCH)	ENSP00000452055.1:n.-57+92653G>A
ENST00000557163.1:n.814C>T (TMEM30B)
ENST00000557294.5:c.-108-41673G>A (PRKCH)	ENSP00000452129.1:n.-108-41673G>A
NM_001017970.2:c.827C>T (TMEM30B)	NP_001017970.1:p.Ala276Val
XM_024449661.1:c.-121+92653G>A (PRKCH)	XP_024305429.1:n.-121+92653G>A
NM_001017970.3:c.827C>T (TMEM30B) MANE Select	NP_001017970.1:p.Ala276Val