Canonical Allele Identifier: CA368841179

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695934T>C , CM000669.2:g.107695934T>C	GRCh38
NC_000007.13:g.107336379T>C , CM000669.1:g.107336379T>C	GRCh37
NC_000007.12:g.107123615T>C	NCBI36
NG_008489.1:g.40300T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000441.2:c.1439T>C MANE Select	NP_000432.1:p.Val480Ala
ENST00000644269.2:c.1439T>C MANE Select	ENSP00000494017.1:p.Val480Ala
NM_000441.1:c.1439T>C	NP_000432.1:p.Val480Ala
ENST00000265715.7:c.1439T>C	ENSP00000265715.3:p.Val480Ala
ENST00000460748.1:n.542T>C
ENST00000477350.5:n.286T>C
ENST00000480841.5:n.288T>C
ENST00000497446.5:n.454T>C
ENST00000644846.1:c.150T>C
XM_005250425.1:c.1439T>C	XP_005250482.1:p.Val480Ala
XM_005250425.2:c.1439T>C	XP_005250482.1:p.Val480Ala
XM_017012318.1:c.1361T>C	XP_016867807.1:p.Val454Ala