Canonical Allele Identifier: CA2217073195

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489006C= , CM000678.2:g.31489006C=	GRCh38
NC_000016.9:g.31500327C= , CM000678.1:g.31500327C=	GRCh37
NC_000016.8:g.31407828C=	NCBI36
NG_012892.1:g.10889C=
NG_033149.1:g.24414G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1407C= MANE Select	ENSP00000327943.3:p.Ala469=
ENST00000330498.3:c.1407C=	ENSP00000327943.3:p.Ala469=
ENST00000419665.6:c.1130-117C=	ENSP00000410601.2:n.1130-117C=
ENST00000568188.1:n.778C=
ENST00000568891.1:n.282-117C=
NM_003041.3:c.1407C=	NP_003032.1:p.Ala469=
NR_130783.1:n.1149-117C=
XM_006721072.2:c.1428C=	XP_006721135.2:p.Ala476=
XM_006721073.2:c.1302-117C=	XP_006721136.2:n.1302-117C=
XM_006721072.4:c.1428C=	XP_006721135.2:p.Ala476=
XM_024450402.1:c.1151-117C=	XP_024306170.1:n.1151-117C=
NM_003041.4:c.1407C= MANE Select	NP_003032.1:p.Ala469=
NR_130783.2:n.1144-117C=