Canonical Allele Identifier: CA5530051
Community Standard Title: NM_002727.4(SRGN):c.254G>A (p.Arg85His)
Gene: SRGN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69103897G>A , CM000672.2:g.69103897G>A GRCh38
NC_000010.10:g.70863653G>A , CM000672.1:g.70863653G>A GRCh37
NC_000010.9:g.70533659G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002727.4:c.254G>A MANE Select NP_002718.2:p.Arg85His
ENST00000242465.4:c.254G>A MANE Select ENSP00000242465.3:p.Arg85His
NM_001321053.1:c.254G>A NP_001307982.1:p.Arg85His
NM_001321053.2:c.254G>A NP_001307982.1:p.Arg85His
NM_001321054.1:c.86G>A NP_001307983.1:p.Arg29His
NM_002727.2:c.254G>A NP_002718.2:p.Arg85His
NM_002727.3:c.254G>A NP_002718.2:p.Arg85His
NR_036430.1:n.192G>A
ENST00000242465.3:c.254G>A ENSP00000242465.3:p.Arg85His
ENST00000462445.1:n.158G>A
XM_017016392.2:c.254G>A XP_016871881.1:p.Arg85His
XM_024448064.1:c.254G>A XP_024303832.1:p.Arg85His
XM_024448065.1:c.254G>A XP_024303833.1:p.Arg85His
XM_024448066.1:c.254G>A XP_024303834.1:p.Arg85His