Canonical Allele Identifier: CA404770951

Gene: SLC5A5

Linked Data

• MyVariant Identifiers: chr19:g.18001743T>C (hg19) ; chr19:g.17890934T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890934T>C , CM000681.2:g.17890934T>C	GRCh38
NC_000019.9:g.18001743T>C , CM000681.1:g.18001743T>C	GRCh37
NC_000019.8:g.17862743T>C	NCBI36
NG_012930.1:g.23962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1700T>C MANE Select	ENSP00000222248.2:p.Leu567Pro
ENST00000222248.3:c.1700T>C	ENSP00000222248.2:p.Leu567Pro
NM_000453.2:c.1700T>C	NP_000444.1:p.Leu567Pro
XM_011528192.1:c.1733T>C	XP_011526494.1:p.Leu578Pro
XM_011528193.1:c.1466T>C	XP_011526495.1:p.Leu489Pro
XM_011528194.1:c.1367T>C	XP_011526496.1:p.Leu456Pro
XM_011528192.2:c.1733T>C	XP_011526494.1:p.Leu578Pro
XM_011528193.3:c.1466T>C	XP_011526495.1:p.Leu489Pro
XM_011528194.3:c.1367T>C	XP_011526496.1:p.Leu456Pro
XM_017027158.1:c.1433T>C	XP_016882647.1:p.Leu478Pro
NM_000453.3:c.1700T>C MANE Select	NP_000444.1:p.Leu567Pro