Canonical Allele Identifier: CA164200132

Gene: SLC26A4

Linked Data

• dbSNP Id: rs916503401
• MyVariant Identifiers: chr7:g.107315537G>A (hg19) ; chr7:g.107675092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107675092G>A , CM000669.2:g.107675092G>A	GRCh38
NC_000007.13:g.107315537G>A , CM000669.1:g.107315537G>A	GRCh37
NC_000007.12:g.107102773G>A	NCBI36
NG_008489.1:g.19458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.748G>A MANE Select	ENSP00000494017.1:p.Val250Ile
ENST00000265715.7:c.748G>A	ENSP00000265715.3:p.Val250Ile
NM_000441.1:c.748G>A	NP_000432.1:p.Val250Ile
XM_005250425.1:c.748G>A	XP_005250482.1:p.Val250Ile
XM_006716025.2:c.748G>A	XP_006716088.1:p.Val250Ile
XM_005250425.2:c.748G>A	XP_005250482.1:p.Val250Ile
XM_006716025.3:c.748G>A	XP_006716088.1:p.Val250Ile
XM_017012318.1:c.748G>A	XP_016867807.1:p.Val250Ile
NM_000441.2:c.748G>A MANE Select	NP_000432.1:p.Val250Ile