Canonical Allele Identifier: CA8223094

Gene: SLC7A5

Linked Data

• ClinVar Variation Id: 731128
• ClinVar RCV Id: RCV000906029 ; RCV003950658
• dbSNP Id: rs33913122
• ExAC: 16:87902642 G / A
• gnomAD v2: 16-87902642-G-A
• gnomAD v3: 16-87869036-G-A
• gnomAD v4: 16-87869036-G-A
• MyVariant Identifiers: chr16:g.87902642G>A (hg19) ; chr16:g.87869036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87869036G>A , CM000678.2:g.87869036G>A	GRCh38
NC_000016.9:g.87902642G>A , CM000678.1:g.87902642G>A	GRCh37
NC_000016.8:g.86460143G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261622.5:c.387C>T MANE Select	ENSP00000261622.4:p.Ala129=
ENST00000261622.4:c.387C>T	ENSP00000261622.4:p.Ala129=
NM_003486.5:c.387C>T	NP_003477.4:p.Ala129=
XM_011523354.1:c.387C>T	XP_011521656.1:p.Ala129=
NM_003486.6:c.387C>T	NP_003477.4:p.Ala129=
XM_017023735.1:c.387C>T	XP_016879224.1:p.Ala129=
XM_017023736.1:c.387C>T	XP_016879225.1:p.Ala129=
NM_003486.7:c.387C>T MANE Select	NP_003477.4:p.Ala129=