Canonical Allele Identifier: CA143208

Gene: SLC26A5

Linked Data

• ClinVar Variation Id: 48339
• ClinVar RCV Id: RCV000041660 ; RCV001682739 ; RCV001807768
• dbSNP Id: rs7779997
• ExAC: 7:103053435 A / G
• gnomAD v2: 7-103053435-A-G
• gnomAD v3: 7-103412988-A-G
• gnomAD v4: 7-103412988-A-G
• MyVariant Identifiers: chr7:g.103053435A>G (hg19) ; chr7:g.103412988A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103412988A>G , CM000669.2:g.103412988A>G	GRCh38
NC_000007.13:g.103053435A>G , CM000669.1:g.103053435A>G	GRCh37
NC_000007.12:g.102840671A>G	NCBI36
NG_023055.1:g.38190T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000306312.8:c.403+14T>C MANE Select	ENSP00000304783.3:n.403+14T>C
ENST00000306312.7:c.403+14T>C	ENSP00000304783.3:n.403+14T>C
ENST00000339444.10:c.403+14T>C	ENSP00000342396.6:n.403+14T>C
ENST00000354356.8:c.403+14T>C	ENSP00000346325.5:n.403+14T>C
ENST00000356767.8:c.403+14T>C	ENSP00000349210.4:n.403+14T>C
ENST00000393723.2:c.403+14T>C	ENSP00000377324.1:n.403+14T>C
ENST00000393727.5:c.403+14T>C	ENSP00000377328.1:n.403+14T>C
ENST00000393729.5:c.293-1402T>C	ENSP00000377330.1:n.293-1402T>C
ENST00000393730.5:c.403+14T>C	ENSP00000377331.1:n.403+14T>C
ENST00000393735.6:c.403+14T>C	ENSP00000377336.2:n.403+14T>C
ENST00000423416.5:c.403+14T>C	ENSP00000389018.1:n.403+14T>C
ENST00000432958.6:c.403+14T>C	ENSP00000389733.2:n.403+14T>C
ENST00000445809.5:c.403+14T>C	ENSP00000396833.1:n.403+14T>C
ENST00000454864.5:c.403+14T>C	ENSP00000416502.1:n.403+14T>C
ENST00000456463.5:c.293-1402T>C	ENSP00000395568.1:n.293-1402T>C
ENST00000487407.1:n.555-1402T>C
NM_001167962.1:c.403+14T>C	NP_001161434.1:n.403+14T>C
NM_198999.2:c.403+14T>C	NP_945350.1:n.403+14T>C
NM_206883.2:c.403+14T>C	NP_996766.1:n.403+14T>C
NM_206884.2:c.403+14T>C	NP_996767.1:n.403+14T>C
NM_206885.2:c.403+14T>C	NP_996768.1:n.403+14T>C
NR_120441.1:n.585+14T>C
NR_120442.1:n.585+14T>C
NR_120443.1:n.585+14T>C
XM_011516170.1:c.403+14T>C	XP_011514472.1:n.403+14T>C
NM_001321787.1:c.403+14T>C	NP_001308716.1:n.403+14T>C
NR_135801.1:n.665+14T>C
NR_135802.1:n.665+14T>C
XM_011516170.3:c.403+14T>C	XP_011514472.1:n.403+14T>C
XR_001744725.2:n.665+14T>C
XR_001744726.1:n.1455+14T>C
XR_001744727.2:n.665+14T>C
XR_002956437.1:n.665+14T>C
NM_001321787.2:c.403+14T>C	NP_001308716.1:n.403+14T>C
NM_198999.3:c.403+14T>C MANE Select	NP_945350.1:n.403+14T>C
NM_206883.3:c.403+14T>C	NP_996766.1:n.403+14T>C
NM_206884.3:c.403+14T>C	NP_996767.1:n.403+14T>C
NM_206885.3:c.403+14T>C	NP_996768.1:n.403+14T>C
NR_135802.2:n.695+14T>C
NM_001167962.2:c.403+14T>C	NP_001161434.1:n.403+14T>C
NR_135801.2:n.695+14T>C