Canonical Allele Identifier: CA6628753

Gene: CS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56276015G>A , CM000674.2:g.56276015G>A	GRCh38
NC_000012.11:g.56669799G>A , CM000674.1:g.56669799G>A	GRCh37
NC_000012.10:g.54956066G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004077.3:c.769C>T MANE Select	NP_004068.2:p.Leu257=
ENST00000351328.8:c.769C>T MANE Select	ENSP00000342056.3:p.Leu257=
NM_004077.2:c.769C>T	NP_004068.2:p.Leu257=
ENST00000351328.7:c.769C>T	ENSP00000342056.3:p.Leu257=
ENST00000542324.6:c.730C>T	ENSP00000440543.2:p.Leu244=
ENST00000546621.5:n.744C>T
ENST00000546891.5:c.609C>T	ENSP00000446492.1:n.609C>T
ENST00000548567.5:c.571C>T	ENSP00000446779.1:p.Leu191=
ENST00000548849.5:c.*307C>T	ENSP00000449491.1:n.*307C>T
ENST00000549143.5:c.*527C>T	ENSP00000449571.1:n.*527C>T
ENST00000552331.1:n.272C>T