Canonical Allele Identifier: CA174289403

Gene: SCARA5

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27907238C>T , CM000670.2:g.27907238C>T	GRCh38
NC_000008.10:g.27764755C>T , CM000670.1:g.27764755C>T	GRCh37
NC_000008.9:g.27820674C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_173833.6:c.1006G>A MANE Select	NP_776194.2:p.Gly336Arg
ENST00000354914.8:c.1006G>A MANE Select	ENSP00000346990.3:p.Gly336Arg
NM_173833.5:c.1006G>A	NP_776194.2:p.Gly336Arg
ENST00000354914.7:c.1006G>A	ENSP00000346990.3:p.Gly336Arg
ENST00000380385.6:c.331G>A	ENSP00000369746.2:p.Gly111Arg
ENST00000518030.1:c.877G>A	ENSP00000430713.1:p.Gly293Arg
ENST00000524352.5:c.1006G>A	ENSP00000428663.1:p.Gly336Arg
XR_001745855.2:n.590-1752C>T
XR_001745856.2:n.595-1752C>T
XR_949612.1:n.555-1752C>T
XR_949613.1:n.555-1752C>T
XR_949613.3:n.595-1752C>T