Canonical Allele Identifier: CA368843221

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107342307T>G (hg19) ; chr7:g.107701862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701862T>G , CM000669.2:g.107701862T>G	GRCh38
NC_000007.13:g.107342307T>G , CM000669.1:g.107342307T>G	GRCh37
NC_000007.12:g.107129543T>G	NCBI36
NG_008489.1:g.46228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1839T>G MANE Select	ENSP00000494017.1:p.Asn613Lys
ENST00000644846.1:c.550T>G
ENST00000265715.7:c.1839T>G	ENSP00000265715.3:p.Asn613Lys
ENST00000480841.5:n.688T>G
ENST00000492030.2:n.126T>G
NM_000441.1:c.1839T>G	NP_000432.1:p.Asn613Lys
XM_005250425.1:c.1839T>G	XP_005250482.1:p.Asn613Lys
XM_005250425.2:c.1839T>G	XP_005250482.1:p.Asn613Lys
XM_017012318.1:c.1761T>G	XP_016867807.1:p.Asn587Lys
NM_000441.2:c.1839T>G MANE Select	NP_000432.1:p.Asn613Lys