Canonical Allele Identifier: CA97581457
Community Standard Title: NM_006947.4(SRP72):c.42G>C (p.Leu14=)
Gene: SRP72 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56467677G>C , CM000666.2:g.56467677G>C GRCh38
NC_000004.11:g.57333843G>C , CM000666.1:g.57333843G>C GRCh37
NC_000004.10:g.57028600G>C NCBI36
NG_032796.1:g.5082G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006947.4:c.42G>C MANE Select NP_008878.3:p.Leu14=
ENST00000642900.1:c.42G>C MANE Select ENSP00000495128.1:p.Leu14=
NM_001267722.1:c.42G>C NP_001254651.1:p.Leu14=
NM_001267722.2:c.42G>C NP_001254651.1:p.Leu14=
NM_006947.3:c.42G>C NP_008878.3:p.Leu14=
NR_151856.1:n.82G>C
NR_151856.2:n.61G>C
ENST00000342756.9:c.42G>C ENSP00000342181.5:p.Leu14=
ENST00000504757.2:c.42G>C ENSP00000473576.1:p.Leu14=
ENST00000510663.5:c.42G>C ENSP00000424576.1:p.Leu14=
ENST00000510663.6:c.42G>C ENSP00000424576.1:p.Leu14=
XM_005265765.3:c.42G>C XP_005265822.2:p.Leu14=
XM_024454192.1:c.42G>C XP_024309960.1:p.Leu14=