Canonical Allele Identifier: CA404770923

Gene: SLC5A5

Linked Data

• MyVariant Identifiers: chr19:g.18001740A>C (hg19) ; chr19:g.17890931A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890931A>C , CM000681.2:g.17890931A>C	GRCh38
NC_000019.9:g.18001740A>C , CM000681.1:g.18001740A>C	GRCh37
NC_000019.8:g.17862740A>C	NCBI36
NG_012930.1:g.23959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1697A>C MANE Select	ENSP00000222248.2:p.Asp566Ala
ENST00000222248.3:c.1697A>C	ENSP00000222248.2:p.Asp566Ala
NM_000453.2:c.1697A>C	NP_000444.1:p.Asp566Ala
XM_011528192.1:c.1730A>C	XP_011526494.1:p.Asp577Ala
XM_011528193.1:c.1463A>C	XP_011526495.1:p.Asp488Ala
XM_011528194.1:c.1364A>C	XP_011526496.1:p.Asp455Ala
XM_011528192.2:c.1730A>C	XP_011526494.1:p.Asp577Ala
XM_011528193.3:c.1463A>C	XP_011526495.1:p.Asp488Ala
XM_011528194.3:c.1364A>C	XP_011526496.1:p.Asp455Ala
XM_017027158.1:c.1430A>C	XP_016882647.1:p.Asp477Ala
NM_000453.3:c.1697A>C MANE Select	NP_000444.1:p.Asp566Ala