Canonical Allele Identifier: CA324629749
Community Standard Title: NM_001207020.3(SHISA8):c.430G>T (p.Ala144Ser)
Gene: SHISA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41914238C>A , CM000684.2:g.41914238C>A GRCh38
NC_000022.10:g.42310242C>A , CM000684.1:g.42310242C>A GRCh37
NC_000022.9:g.40640188C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001207020.3:c.430G>T MANE Select NP_001193949.1:p.Ala144Ser
ENST00000621082.2:c.430G>T MANE Select ENSP00000481203.1:p.Ala144Ser
NM_001207020.1:c.430G>T NP_001193949.1:p.Ala144Ser
NM_001207020.2:c.430G>T NP_001193949.1:p.Ala144Ser
NM_001353438.1:c.430G>T NP_001340367.1:p.Ala144Ser
NM_001353438.2:c.430G>T NP_001340367.1:p.Ala144Ser
NM_001353439.1:c.430G>T NP_001340368.1:p.Ala144Ser
NM_001353439.2:c.430G>T NP_001340368.1:p.Ala144Ser
ENST00000457093.1:c.329G>T
ENST00000621082.1:c.430G>T ENSP00000481203.1:p.Ala144Ser
XM_006724254.2:c.430G>T XP_006724317.1:p.Ala144Ser
XM_006724255.2:c.430G>T XP_006724318.1:p.Ala144Ser
XM_006724256.2:c.430G>T XP_006724319.1:p.Ala144Ser
XM_006724256.4:c.430G>T XP_006724319.1:p.Ala144Ser
XR_002958691.1:n.856G>T