Canonical Allele Identifier: CA253309

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694473T>G , CM000669.2:g.107694473T>G	GRCh38
NC_000007.13:g.107334918T>G , CM000669.1:g.107334918T>G	GRCh37
NC_000007.12:g.107122154T>G	NCBI36
NG_008489.1:g.38839T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000441.2:c.1334T>G MANE Select	NP_000432.1:p.Leu445Trp
ENST00000644269.2:c.1334T>G MANE Select	ENSP00000494017.1:p.Leu445Trp
NM_000441.1:c.1334T>G	NP_000432.1:p.Leu445Trp
ENST00000265715.7:c.1334T>G	ENSP00000265715.3:p.Leu445Trp
ENST00000460748.1:n.437T>G
ENST00000477350.5:n.189-148T>G
ENST00000480841.5:n.183T>G
ENST00000497446.5:n.349T>G
ENST00000644846.1:c.45T>G
XM_005250425.1:c.1334T>G	XP_005250482.1:p.Leu445Trp
XM_005250425.2:c.1334T>G	XP_005250482.1:p.Leu445Trp
XM_017012318.1:c.1264-148T>G	XP_016867807.1:n.1264-148T>G