Canonical Allele Identifier: CA9358619
Community Standard Title: NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32859885C>T , CM000681.2:g.32859885C>T GRCh38
NC_000019.9:g.33350791C>T , CM000681.1:g.33350791C>T GRCh37
NC_000019.8:g.38042631C>T NCBI36
NG_008258.1:g.14893G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.829G>A MANE Select NP_055085.1:p.Val277Met
ENST00000023064.9:c.829G>A MANE Select ENSP00000023064.3:p.Val277Met
NM_001126335.1:c.829G>A NP_001119807.1:p.Val277Met
NM_001126335.2:c.829G>A NP_001119807.1:p.Val277Met
NM_001243036.1:c.829G>A NP_001229965.1:p.Val277Met
NM_001243036.2:c.829G>A NP_001229965.1:p.Val277Met
NM_014270.4:c.829G>A NP_055085.1:p.Val277Met
ENST00000023064.8:c.829G>A ENSP00000023064.3:p.Val277Met
ENST00000587772.1:c.829G>A ENSP00000468439.1:p.Val277Met
ENST00000589659.1:n.774G>A
ENST00000590341.5:c.829G>A ENSP00000464822.1:p.Val277Met
ENST00000590465.5:c.*976G>A ENSP00000468076.1:n.*976G>A
ENST00000592232.5:c.*335G>A ENSP00000465563.1:n.*335G>A
XM_006722992.1:c.148G>A XP_006723055.1:p.Val50Met
XM_011526402.1:c.829G>A XP_011524704.1:p.Val277Met
XM_011526402.3:c.829G>A XP_011524704.1:p.Val277Met
XM_017026230.1:c.565G>A XP_016881719.1:p.Val189Met
XM_024451334.1:c.202G>A XP_024307102.1:p.Val68Met