Canonical Allele Identifier: CA368841370

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107336475G>T (hg19) ; chr7:g.107696030G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696030G>T , CM000669.2:g.107696030G>T	GRCh38
NC_000007.13:g.107336475G>T , CM000669.1:g.107336475G>T	GRCh37
NC_000007.12:g.107123711G>T	NCBI36
NG_008489.1:g.40396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1535G>T MANE Select	ENSP00000494017.1:p.Arg512Ile
ENST00000644846.1:c.246G>T
ENST00000265715.7:c.1535G>T	ENSP00000265715.3:p.Arg512Ile
ENST00000477350.5:n.382G>T
ENST00000480841.5:n.384G>T
ENST00000497446.5:n.550G>T
NM_000441.1:c.1535G>T	NP_000432.1:p.Arg512Ile
XM_005250425.1:c.1535G>T	XP_005250482.1:p.Arg512Ile
XM_005250425.2:c.1535G>T	XP_005250482.1:p.Arg512Ile
XM_017012318.1:c.1457G>T	XP_016867807.1:p.Arg486Ile
NM_000441.2:c.1535G>T MANE Select	NP_000432.1:p.Arg512Ile