Canonical Allele Identifier: CA346172940

Gene: SLC5A6

Linked Data

• ClinVar Variation Id: 2298082
• ClinVar RCV Id: RCV002882691
• gnomAD v4: 2-27204583-A-G
• MyVariant Identifiers: chr2:g.27427451A>G (hg19) ; chr2:g.27204583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27204583A>G , CM000664.2:g.27204583A>G	GRCh38
NC_000002.11:g.27427451A>G , CM000664.1:g.27427451A>G	GRCh37
NC_000002.10:g.27280955A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310574.8:c.883T>C MANE Select	ENSP00000310208.3:p.Tyr295His
ENST00000310574.7:c.883T>C	ENSP00000310208.3:p.Tyr295His
ENST00000408041.5:c.883T>C	ENSP00000384853.1:p.Tyr295His
ENST00000476319.1:n.299T>C
ENST00000488743.6:n.1217T>C
ENST00000492069.5:n.90T>C
NM_021095.2:c.883T>C	NP_066918.2:p.Tyr295His
NR_028323.1:n.1378T>C
XM_006712128.1:c.883T>C	XP_006712191.1:p.Tyr295His
XM_006712129.1:c.883T>C	XP_006712192.1:p.Tyr295His
XM_006712130.1:c.883T>C	XP_006712193.1:p.Tyr295His
XM_006712131.2:c.883T>C	XP_006712194.1:p.Tyr295His
XM_011533144.1:c.883T>C	XP_011531446.1:p.Tyr295His
XM_011533145.1:c.883T>C	XP_011531447.1:p.Tyr295His
XM_011533146.1:c.214T>C	XP_011531448.1:p.Tyr72His
XR_939737.1:n.1378T>C
XM_006712128.2:c.883T>C	XP_006712191.1:p.Tyr295His
XM_011533146.3:c.214T>C	XP_011531448.1:p.Tyr72His
XM_017005216.1:c.256T>C	XP_016860705.1:p.Tyr86His
XM_024453206.1:c.883T>C	XP_024308974.1:p.Tyr295His
XM_024453207.1:c.883T>C	XP_024308975.1:p.Tyr295His
XR_001739022.1:n.1179T>C
XR_001739023.1:n.1109T>C
XR_001739024.2:n.1176T>C
XR_001739025.2:n.1115T>C
XR_002959356.1:n.1413T>C
XR_002959357.1:n.1348T>C
XR_002959358.1:n.1348T>C
NM_021095.3:c.883T>C	NP_066918.2:p.Tyr295His
NM_021095.4:c.883T>C MANE Select	NP_066918.2:p.Tyr295His
NR_028323.2:n.1339T>C