Canonical Allele Identifier: CA1732751027

Gene: SLC26A4

Linked Data

• dbSNP Id: rs185301393

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107709931G>C , CM000669.2:g.107709931G>C	GRCh38
NC_000007.13:g.107350376G>C , CM000669.1:g.107350376G>C	GRCh37
NC_000007.12:g.107137612G>C	NCBI36
NG_008489.1:g.54297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.2090-123G>C MANE Select	ENSP00000494017.1:n.2090-123G>C
ENST00000644846.1:c.746-123G>C
ENST00000265715.7:c.2090-123G>C	ENSP00000265715.3:n.2090-123G>C
ENST00000492030.2:n.377-224G>C
NM_000441.1:c.2090-123G>C	NP_000432.1:n.2090-123G>C
XM_005250425.1:c.2090-123G>C	XP_005250482.1:n.2090-123G>C
XM_005250425.2:c.2090-123G>C	XP_005250482.1:n.2090-123G>C
XM_017012318.1:c.2012-123G>C	XP_016867807.1:n.2012-123G>C
NM_000441.2:c.2090-123G>C MANE Select	NP_000432.1:n.2090-123G>C