Canonical Allele Identifier: CA10483465

Gene: TBC1D8B MORC4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106870766C>T , CM000685.2:g.106870766C>T	GRCh38
NC_000023.10:g.106113996C>T , CM000685.1:g.106113996C>T	GRCh37
NC_000023.9:g.106000652C>T	NCBI36
NG_021284.1:g.73078C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017752.3:c.2920C>T (TBC1D8B) MANE Select	NP_060222.2:p.Leu974Phe
ENST00000357242.10:c.2920C>T (TBC1D8B) MANE Select	ENSP00000349781.5:p.Leu974Phe
NM_017752.2:c.2920C>T (TBC1D8B)	NP_060222.2:p.Leu974Phe
ENST00000276175.7:c.2902C>T (TBC1D8B)	ENSP00000276175.3:p.Leu968Phe
ENST00000357242.9:c.2920C>T (TBC1D8B)	ENSP00000349781.5:p.Leu974Phe
ENST00000604604.1:c.112-54980G>A (MORC4)
XM_006724669.1:c.2770C>T (TBC1D8B)	XP_006724732.1:p.Leu924Phe
XM_006724670.2:c.2626C>T (TBC1D8B)	XP_006724733.1:p.Leu876Phe
XM_006724670.4:c.2626C>T (TBC1D8B)	XP_006724733.1:p.Leu876Phe