Canonical Allele Identifier: CA397042216

Gene: SLC7A5

Linked Data

• MyVariant Identifiers: chr16:g.87874736G>T (hg19) ; chr16:g.87841130G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87841130G>T , CM000678.2:g.87841130G>T	GRCh38
NC_000016.9:g.87874736G>T , CM000678.1:g.87874736G>T	GRCh37
NC_000016.8:g.86432237G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261622.5:c.690C>A MANE Select	ENSP00000261622.4:p.Asn230Lys
ENST00000261622.4:c.690C>A	ENSP00000261622.4:p.Asn230Lys
ENST00000565644.5:c.-109C>A	ENSP00000454323.1:n.-109C>A
NM_003486.5:c.690C>A	NP_003477.4:p.Asn230Lys
XM_006721286.2:c.171C>A	XP_006721349.1:p.Asn57Lys
XM_011523354.1:c.564C>A	XP_011521656.1:p.Asn188Lys
XM_011523355.1:c.159C>A	XP_011521657.1:p.Asn53Lys
NM_003486.6:c.690C>A	NP_003477.4:p.Asn230Lys
XM_006721286.3:c.225C>A	XP_006721349.2:p.Asn75Lys
XM_017023735.1:c.690C>A	XP_016879224.1:p.Asn230Lys
XM_017023736.1:c.564C>A	XP_016879225.1:p.Asn188Lys
XM_017023737.2:c.159C>A	XP_016879226.1:p.Asn53Lys
NM_003486.7:c.690C>A MANE Select	NP_003477.4:p.Asn230Lys