Canonical Allele Identifier: CA368841734

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107338552A>T (hg19) ; chr7:g.107698107A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107698107A>T , CM000669.2:g.107698107A>T	GRCh38
NC_000007.13:g.107338552A>T , CM000669.1:g.107338552A>T	GRCh37
NC_000007.12:g.107125788A>T	NCBI36
NG_008489.1:g.42473A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1610A>T MANE Select	ENSP00000494017.1:p.Lys537Ile
ENST00000644846.1:c.321A>T
ENST00000265715.7:c.1610A>T	ENSP00000265715.3:p.Lys537Ile
ENST00000477350.5:n.457A>T
ENST00000480841.5:n.459A>T
NM_000441.1:c.1610A>T	NP_000432.1:p.Lys537Ile
XM_005250425.1:c.1610A>T	XP_005250482.1:p.Lys537Ile
XM_005250425.2:c.1610A>T	XP_005250482.1:p.Lys537Ile
XM_017012318.1:c.1532A>T	XP_016867807.1:p.Lys511Ile
NM_000441.2:c.1610A>T MANE Select	NP_000432.1:p.Lys537Ile