Canonical Allele Identifier: CA395755045

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488919G>C , CM000678.2:g.31488919G>C	GRCh38
NC_000016.9:g.31500240G>C , CM000678.1:g.31500240G>C	GRCh37
NC_000016.8:g.31407741G>C	NCBI36
NG_012892.1:g.10802G>C
NG_033149.1:g.24501C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003041.4:c.1320G>C MANE Select	NP_003032.1:p.Trp440Cys
ENST00000330498.4:c.1320G>C MANE Select	ENSP00000327943.3:p.Trp440Cys
NM_003041.3:c.1320G>C	NP_003032.1:p.Trp440Cys
NR_130783.1:n.1149-204G>C
NR_130783.2:n.1144-204G>C
ENST00000330498.3:c.1320G>C	ENSP00000327943.3:p.Trp440Cys
ENST00000419665.6:c.1130-204G>C	ENSP00000410601.2:n.1130-204G>C
ENST00000568188.1:n.691G>C
ENST00000568891.1:n.282-204G>C
XM_006721072.2:c.1341G>C	XP_006721135.2:p.Trp447Cys
XM_006721072.4:c.1341G>C	XP_006721135.2:p.Trp447Cys
XM_006721073.2:c.1301+147G>C	XP_006721136.2:n.1301+147G>C
XM_024450402.1:c.1151-204G>C	XP_024306170.1:n.1151-204G>C