Canonical Allele Identifier: CA346173884

Gene: SLC5A6

Linked Data

• ClinVar Variation Id: 2073503
• ClinVar RCV Id: RCV002971936
• gnomAD v4: 2-27204837-G-A
• MyVariant Identifiers: chr2:g.27427705G>A (hg19) ; chr2:g.27204837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27204837G>A , CM000664.2:g.27204837G>A	GRCh38
NC_000002.11:g.27427705G>A , CM000664.1:g.27427705G>A	GRCh37
NC_000002.10:g.27281209G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310574.8:c.829C>T MANE Select	ENSP00000310208.3:p.Gln277Ter
ENST00000310574.7:c.829C>T	ENSP00000310208.3:p.Gln277Ter
ENST00000408041.5:c.829C>T	ENSP00000384853.1:p.Gln277Ter
ENST00000476319.1:n.245C>T
ENST00000488743.6:n.1163C>T
NM_021095.2:c.829C>T	NP_066918.2:p.Gln277Ter
NR_028323.1:n.1324C>T
XM_006712128.1:c.829C>T	XP_006712191.1:p.Gln277Ter
XM_006712129.1:c.829C>T	XP_006712192.1:p.Gln277Ter
XM_006712130.1:c.829C>T	XP_006712193.1:p.Gln277Ter
XM_006712131.2:c.829C>T	XP_006712194.1:p.Gln277Ter
XM_011533144.1:c.829C>T	XP_011531446.1:p.Gln277Ter
XM_011533145.1:c.829C>T	XP_011531447.1:p.Gln277Ter
XM_011533146.1:c.160C>T	XP_011531448.1:p.Gln54Ter
XR_939737.1:n.1324C>T
XM_006712128.2:c.829C>T	XP_006712191.1:p.Gln277Ter
XM_011533146.3:c.160C>T	XP_011531448.1:p.Gln54Ter
XM_017005216.1:c.202C>T	XP_016860705.1:p.Gln68Ter
XM_024453206.1:c.829C>T	XP_024308974.1:p.Gln277Ter
XM_024453207.1:c.829C>T	XP_024308975.1:p.Gln277Ter
XR_001739022.1:n.1125C>T
XR_001739023.1:n.1055C>T
XR_001739024.2:n.1122C>T
XR_001739025.2:n.1061C>T
XR_002959356.1:n.1359C>T
XR_002959357.1:n.1294C>T
XR_002959358.1:n.1294C>T
NM_021095.3:c.829C>T	NP_066918.2:p.Gln277Ter
NM_021095.4:c.829C>T MANE Select	NP_066918.2:p.Gln277Ter
NR_028323.2:n.1285C>T