Canonical Allele Identifier: CA10199382

Gene: SLC5A4 SLC5A4-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32229221G>A , CM000684.2:g.32229221G>A	GRCh38
NC_000022.10:g.32625208G>A , CM000684.1:g.32625208G>A	GRCh37
NC_000022.9:g.30955208G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266086.6:c.1253C>T (SLC5A4) MANE Select	ENSP00000266086.3:p.Ser418Leu
ENST00000266086.5:c.1253C>T (SLC5A4)	ENSP00000266086.3:p.Ser418Leu
NM_014227.2:c.1253C>T (SLC5A4)	NP_055042.1:p.Ser418Leu
XM_006724308.2:c.1115C>T (SLC5A4)	XP_006724371.1:p.Ser372Leu
XM_011530342.1:c.1115C>T (SLC5A4)	XP_011528644.1:p.Ser372Leu
XM_011530343.1:c.1115C>T (SLC5A4)	XP_011528645.1:p.Ser372Leu
XM_011530344.1:c.1046C>T (SLC5A4)	XP_011528646.1:p.Ser349Leu
NR_149072.1:n.274+21945G>A (SLC5A4-AS1)
XM_006724308.3:c.1115C>T (SLC5A4)	XP_006724371.1:p.Ser372Leu
XM_011530342.2:c.1115C>T (SLC5A4)	XP_011528644.1:p.Ser372Leu
XM_011530343.2:c.1115C>T (SLC5A4)	XP_011528645.1:p.Ser372Leu
XM_011530344.2:c.1046C>T (SLC5A4)	XP_011528646.1:p.Ser349Leu
XM_017028920.1:c.1343C>T (SLC5A4)	XP_016884409.1:p.Ser448Leu
NM_014227.3:c.1253C>T (SLC5A4) MANE Select	NP_055042.1:p.Ser418Leu