Canonical Allele Identifier: CA457104233
Gene: SLC26A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107302248C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661803C>T , CM000669.2:g.107661803C>T GRCh38
NC_000007.13:g.107302248C>T , CM000669.1:g.107302248C>T GRCh37
NC_000007.12:g.107089484C>T NCBI36
NG_008489.1:g.6169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.162C>T MANE Select ENSP00000494017.1:p.Cys54=
ENST00000265715.7:c.162C>T ENSP00000265715.3:p.Cys54=
ENST00000440056.1:c.162C>T ENSP00000394760.1:p.Cys54=
NM_000441.1:c.162C>T NP_000432.1:p.Cys54=
XM_005250425.1:c.162C>T XP_005250482.1:p.Cys54=
XM_006716025.2:c.162C>T XP_006716088.1:p.Cys54=
XM_005250425.2:c.162C>T XP_005250482.1:p.Cys54=
XM_006716025.3:c.162C>T XP_006716088.1:p.Cys54=
XM_017012318.1:c.162C>T XP_016867807.1:p.Cys54=
NM_000441.2:c.162C>T MANE Select NP_000432.1:p.Cys54=