Canonical Allele Identifier: CA2549544487

Gene: SLC5A5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17891033G>C , CM000681.2:g.17891033G>C	GRCh38
NC_000019.9:g.18001842G>C , CM000681.1:g.18001842G>C	GRCh37
NC_000019.8:g.17862842G>C	NCBI36
NG_012930.1:g.24061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1767+32G>C MANE Select	ENSP00000222248.2:n.1767+32G>C
ENST00000222248.3:c.1767+32G>C	ENSP00000222248.2:n.1767+32G>C
NM_000453.2:c.1767+32G>C	NP_000444.1:n.1767+32G>C
XM_011528192.1:c.1800+32G>C	XP_011526494.1:n.1800+32G>C
XM_011528193.1:c.1533+32G>C	XP_011526495.1:n.1533+32G>C
XM_011528194.1:c.1434+32G>C	XP_011526496.1:n.1434+32G>C
XM_011528192.2:c.1800+32G>C	XP_011526494.1:n.1800+32G>C
XM_011528193.3:c.1533+32G>C	XP_011526495.1:n.1533+32G>C
XM_011528194.3:c.1434+32G>C	XP_011526496.1:n.1434+32G>C
XM_017027158.1:c.1500+32G>C	XP_016882647.1:n.1500+32G>C
NM_000453.3:c.1767+32G>C MANE Select	NP_000444.1:n.1767+32G>C