Canonical Allele Identifier: CA368841374

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107336477G>C (hg19) ; chr7:g.107696032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696032G>C , CM000669.2:g.107696032G>C	GRCh38
NC_000007.13:g.107336477G>C , CM000669.1:g.107336477G>C	GRCh37
NC_000007.12:g.107123713G>C	NCBI36
NG_008489.1:g.40398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1537G>C MANE Select	ENSP00000494017.1:p.Val513Leu
ENST00000644846.1:c.248G>C
ENST00000265715.7:c.1537G>C	ENSP00000265715.3:p.Val513Leu
ENST00000477350.5:n.384G>C
ENST00000480841.5:n.386G>C
ENST00000497446.5:n.552G>C
NM_000441.1:c.1537G>C	NP_000432.1:p.Val513Leu
XM_005250425.1:c.1537G>C	XP_005250482.1:p.Val513Leu
XM_005250425.2:c.1537G>C	XP_005250482.1:p.Val513Leu
XM_017012318.1:c.1459G>C	XP_016867807.1:p.Val487Leu
NM_000441.2:c.1537G>C MANE Select	NP_000432.1:p.Val513Leu