Canonical Allele Identifier: CA4432393

Gene: SLC26A4

Linked Data

• dbSNP Id: rs758016867
• ExAC: 7:107303767 T / A
• gnomAD v2: 7-107303767-T-A
• gnomAD v4: 7-107663322-T-A
• MyVariant Identifiers: chr7:g.107303767T>A (hg19) ; chr7:g.107663322T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663322T>A , CM000669.2:g.107663322T>A	GRCh38
NC_000007.13:g.107303767T>A , CM000669.1:g.107303767T>A	GRCh37
NC_000007.12:g.107091003T>A	NCBI36
NG_008489.1:g.7688T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.191T>A MANE Select	ENSP00000494017.1:p.Val64Glu
ENST00000265715.7:c.191T>A	ENSP00000265715.3:p.Val64Glu
ENST00000440056.1:c.191T>A	ENSP00000394760.1:p.Val64Glu
NM_000441.1:c.191T>A	NP_000432.1:p.Val64Glu
XM_005250425.1:c.191T>A	XP_005250482.1:p.Val64Glu
XM_006716025.2:c.191T>A	XP_006716088.1:p.Val64Glu
XM_005250425.2:c.191T>A	XP_005250482.1:p.Val64Glu
XM_006716025.3:c.191T>A	XP_006716088.1:p.Val64Glu
XM_017012318.1:c.191T>A	XP_016867807.1:p.Val64Glu
NM_000441.2:c.191T>A MANE Select	NP_000432.1:p.Val64Glu