Canonical Allele Identifier: CA368845349

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107303769C>A (hg19) ; chr7:g.107663324C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663324C>A , CM000669.2:g.107663324C>A	GRCh38
NC_000007.13:g.107303769C>A , CM000669.1:g.107303769C>A	GRCh37
NC_000007.12:g.107091005C>A	NCBI36
NG_008489.1:g.7690C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.193C>A MANE Select	ENSP00000494017.1:p.Leu65Ile
ENST00000265715.7:c.193C>A	ENSP00000265715.3:p.Leu65Ile
ENST00000440056.1:c.193C>A	ENSP00000394760.1:p.Leu65Ile
NM_000441.1:c.193C>A	NP_000432.1:p.Leu65Ile
XM_005250425.1:c.193C>A	XP_005250482.1:p.Leu65Ile
XM_006716025.2:c.193C>A	XP_006716088.1:p.Leu65Ile
XM_005250425.2:c.193C>A	XP_005250482.1:p.Leu65Ile
XM_006716025.3:c.193C>A	XP_006716088.1:p.Leu65Ile
XM_017012318.1:c.193C>A	XP_016867807.1:p.Leu65Ile
NM_000441.2:c.193C>A MANE Select	NP_000432.1:p.Leu65Ile