Canonical Allele Identifier: CA348114302

Gene: SLC5A7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108010431G>C , CM000664.2:g.108010431G>C	GRCh38
NC_000002.11:g.108626887G>C , CM000664.1:g.108626887G>C	GRCh37
NC_000002.10:g.107993319G>C	NCBI36
NG_042267.1:g.28918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264047.3:c.1313G>C MANE Select	ENSP00000264047.2:p.Gly438Ala
ENST00000264047.2:c.1313G>C	ENSP00000264047.2:p.Gly438Ala
ENST00000409059.5:c.1313G>C	ENSP00000387346.1:p.Gly438Ala
NM_001305005.1:c.1313G>C	NP_001291934.1:p.Gly438Ala
NM_001305005.2:c.1313G>C	NP_001291934.1:p.Gly438Ala
NM_001305006.1:c.998G>C	NP_001291935.1:p.Gly333Ala
NM_001305006.2:c.998G>C	NP_001291935.1:p.Gly333Ala
NM_001305007.1:c.572G>C	NP_001291936.1:p.Gly191Ala
NM_001305007.2:c.572G>C	NP_001291936.1:p.Gly191Ala
NM_021815.3:c.1313G>C	NP_068587.1:p.Gly438Ala
NM_021815.4:c.1313G>C	NP_068587.1:p.Gly438Ala
XM_011511579.1:c.1199G>C	XP_011509881.1:p.Gly400Ala
XM_011511580.1:c.1061G>C	XP_011509882.1:p.Gly354Ala
XM_011511581.1:c.998G>C	XP_011509883.1:p.Gly333Ala
XM_011511580.2:c.1061G>C	XP_011509882.1:p.Gly354Ala
XM_017004628.1:c.1199G>C	XP_016860117.1:p.Gly400Ala
XM_017004629.2:c.998G>C	XP_016860118.1:p.Gly333Ala
NM_001305005.3:c.1313G>C	NP_001291934.1:p.Gly438Ala
NM_001305006.3:c.998G>C	NP_001291935.1:p.Gly333Ala
NM_001305007.3:c.572G>C	NP_001291936.1:p.Gly191Ala
NM_021815.5:c.1313G>C MANE Select	NP_068587.1:p.Gly438Ala