Canonical Allele Identifier: CA16605207

Gene: SLC26A4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694404T>C , CM000669.2:g.107694404T>C	GRCh38
NC_000007.13:g.107334849T>C , CM000669.1:g.107334849T>C	GRCh37
NC_000007.12:g.107122085T>C	NCBI36
NG_008489.1:g.38770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1265T>C MANE Select	ENSP00000494017.1:p.Val422Ala
ENST00000265715.7:c.1265T>C	ENSP00000265715.3:p.Val422Ala
ENST00000460748.1:n.368T>C
ENST00000477350.5:n.189-217T>C
ENST00000480841.5:n.114T>C
ENST00000497446.5:n.280T>C
NM_000441.1:c.1265T>C	NP_000432.1:p.Val422Ala
XM_005250425.1:c.1265T>C	XP_005250482.1:p.Val422Ala
XM_005250425.2:c.1265T>C	XP_005250482.1:p.Val422Ala
XM_017012318.1:c.1264-217T>C	XP_016867807.1:n.1264-217T>C
NM_000441.2:c.1265T>C MANE Select	NP_000432.1:p.Val422Ala