Canonical Allele Identifier: CA405204531
Community Standard Title: NM_014270.5(SLC7A9):c.151T>C (p.Ser51Pro)
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32864713A>G , CM000681.2:g.32864713A>G GRCh38
NC_000019.9:g.33355619A>G , CM000681.1:g.33355619A>G GRCh37
NC_000019.8:g.38047459A>G NCBI36
NG_008258.1:g.10065T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.151T>C MANE Select NP_055085.1:p.Ser51Pro
ENST00000023064.9:c.151T>C MANE Select ENSP00000023064.3:p.Ser51Pro
NM_001126335.1:c.151T>C NP_001119807.1:p.Ser51Pro
NM_001126335.2:c.151T>C NP_001119807.1:p.Ser51Pro
NM_001243036.1:c.151T>C NP_001229965.1:p.Ser51Pro
NM_001243036.2:c.151T>C NP_001229965.1:p.Ser51Pro
NM_014270.4:c.151T>C NP_055085.1:p.Ser51Pro
ENST00000023064.8:c.151T>C ENSP00000023064.3:p.Ser51Pro
ENST00000587772.1:c.151T>C ENSP00000468439.1:p.Ser51Pro
ENST00000590341.5:c.151T>C ENSP00000464822.1:p.Ser51Pro
ENST00000590465.5:c.88-375T>C ENSP00000468076.1:n.88-375T>C
ENST00000592232.5:c.88-375T>C ENSP00000465563.1:n.88-375T>C
XM_006722992.1:c.-305T>C XP_006723055.1:n.-305T>C
XM_011526402.1:c.151T>C XP_011524704.1:p.Ser51Pro
XM_011526402.3:c.151T>C XP_011524704.1:p.Ser51Pro
XM_017026230.1:c.-29-375T>C XP_016881719.1:n.-29-375T>C
XM_024451334.1:c.-892T>C XP_024307102.1:n.-892T>C