Canonical Allele Identifier: CA368843849

Gene: SLC26A4

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107702050T>C , CM000669.2:g.107702050T>C	GRCh38
NC_000007.13:g.107342495T>C , CM000669.1:g.107342495T>C	GRCh37
NC_000007.12:g.107129731T>C	NCBI36
NG_008489.1:g.46416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.2027T>C MANE Select	ENSP00000494017.1:p.Leu676Pro
ENST00000644846.1:c.738T>C
ENST00000265715.7:c.2027T>C	ENSP00000265715.3:p.Leu676Pro
ENST00000492030.2:n.314T>C
NM_000441.1:c.2027T>C	NP_000432.1:p.Leu676Pro
XM_005250425.1:c.2027T>C	XP_005250482.1:p.Leu676Pro
XM_005250425.2:c.2027T>C	XP_005250482.1:p.Leu676Pro
XM_017012318.1:c.1949T>C	XP_016867807.1:p.Leu650Pro
NM_000441.2:c.2027T>C MANE Select	NP_000432.1:p.Leu676Pro