Canonical Allele Identifier: CA3141151
Community Standard Title: NM_007281.4(SCRG1):c.52G>T (p.Val18Phe)
Gene: SCRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.173391363C>A , CM000666.2:g.173391363C>A GRCh38
NC_000004.11:g.174312514C>A , CM000666.1:g.174312514C>A GRCh37
NC_000004.10:g.174549089C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_007281.4:c.52G>T MANE Select NP_009212.1:p.Val18Phe
ENST00000296506.8:c.52G>T MANE Select ENSP00000296506.2:p.Val18Phe
NM_001329597.1:c.52G>T NP_001316526.1:p.Val18Phe
NM_001329597.2:c.52G>T NP_001316526.1:p.Val18Phe
NM_007281.2:c.52G>T NP_009212.1:p.Val18Phe
NM_007281.3:c.52G>T NP_009212.1:p.Val18Phe
ENST00000296506.7:c.52G>T ENSP00000296506.2:p.Val18Phe
ENST00000512188.1:c.52G>T ENSP00000425404.1:p.Val18Phe
XM_011531578.1:c.169G>T XP_011529880.1:p.Val57Phe
XM_024453882.1:c.52G>T XP_024309650.1:p.Val18Phe
XR_427632.2:n.145+2789C>A