Canonical Allele Identifier: CA1949569

Gene: CERS6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168715100C>G , CM000664.2:g.168715100C>G	GRCh38
NC_000002.11:g.169571610C>G , CM000664.1:g.169571610C>G	GRCh37
NC_000002.10:g.169279856C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_203463.3:c.709C>G MANE Select	NP_982288.1:p.Leu237Val
ENST00000305747.11:c.709C>G MANE Select	ENSP00000306579.6:p.Leu237Val
NM_001256126.1:c.709C>G	NP_001243055.1:p.Leu237Val
NM_001256126.2:c.709C>G	NP_001243055.1:p.Leu237Val
NM_203463.2:c.709C>G	NP_982288.1:p.Leu237Val
ENST00000305747.10:c.709C>G	ENSP00000306579.6:p.Leu237Val
ENST00000392687.4:c.709C>G	ENSP00000376453.4:p.Leu237Val
XM_005246440.3:c.133C>G	XP_005246497.1:p.Leu45Val
XM_005246440.5:c.133C>G	XP_005246497.1:p.Leu45Val
XM_017003749.2:c.286C>G	XP_016859238.1:p.Leu96Val
XM_024452780.1:c.709C>G	XP_024308548.1:p.Leu237Val
XM_024452781.1:c.709C>G	XP_024308549.1:p.Leu237Val