Canonical Allele Identifier: CA368843128

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107342281A>T (hg19) ; chr7:g.107701836A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701836A>T , CM000669.2:g.107701836A>T	GRCh38
NC_000007.13:g.107342281A>T , CM000669.1:g.107342281A>T	GRCh37
NC_000007.12:g.107129517A>T	NCBI36
NG_008489.1:g.46202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1813A>T MANE Select	ENSP00000494017.1:p.Ile605Leu
ENST00000644846.1:c.524A>T
ENST00000265715.7:c.1813A>T	ENSP00000265715.3:p.Ile605Leu
ENST00000480841.5:n.662A>T
ENST00000492030.2:n.100A>T
NM_000441.1:c.1813A>T	NP_000432.1:p.Ile605Leu
XM_005250425.1:c.1813A>T	XP_005250482.1:p.Ile605Leu
XM_005250425.2:c.1813A>T	XP_005250482.1:p.Ile605Leu
XM_017012318.1:c.1735A>T	XP_016867807.1:p.Ile579Leu
NM_000441.2:c.1813A>T MANE Select	NP_000432.1:p.Ile605Leu