Canonical Allele Identifier: CA6570312

Gene: SLC4A8

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51453646T>C , CM000674.2:g.51453646T>C	GRCh38
NC_000012.11:g.51847430T>C , CM000674.1:g.51847430T>C	GRCh37
NC_000012.10:g.50133697T>C	NCBI36
NG_032675.1:g.67200T>C
NG_032675.2:g.67200T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001039960.3:c.521T>C MANE Select	NP_001035049.1:p.Ile174Thr
ENST00000453097.7:c.521T>C MANE Select	ENSP00000405812.2:p.Ile174Thr
NM_001039960.2:c.521T>C	NP_001035049.1:p.Ile174Thr
NM_001258401.2:c.362T>C	NP_001245330.1:p.Ile121Thr
NM_001258401.3:c.362T>C	NP_001245330.1:p.Ile121Thr
NM_001258402.1:c.521T>C	NP_001245331.1:p.Ile174Thr
NM_001258402.2:c.521T>C	NP_001245331.1:p.Ile174Thr
NM_001258403.1:c.362T>C	NP_001245332.1:p.Ile121Thr
NM_001258403.2:c.362T>C	NP_001245332.1:p.Ile121Thr
NM_001267615.1:c.362T>C	NP_001254544.1:p.Ile121Thr
NM_001267615.2:c.362T>C	NP_001254544.1:p.Ile121Thr
ENST00000319957.10:n.536T>C
ENST00000358657.7:c.362T>C	ENSP00000351483.4:p.Ile121Thr
ENST00000453097.6:c.521T>C	ENSP00000405812.2:p.Ile174Thr
ENST00000514353.7:c.362T>C	ENSP00000442561.2:p.Ile121Thr
ENST00000535225.6:c.362T>C	ENSP00000441520.1:p.Ile121Thr
ENST00000547697.6:n.1199T>C
ENST00000551071.5:n.707T>C
ENST00000552001.1:n.439T>C
ENST00000604314.5:n.600T>C
XM_006719700.1:c.521T>C	XP_006719763.1:p.Ile174Thr
XM_011539010.1:c.521T>C	XP_011537312.1:p.Ile174Thr
XM_011539011.1:c.362T>C	XP_011537313.1:p.Ile121Thr
XM_011539012.1:c.521T>C	XP_011537314.1:p.Ile174Thr
XM_017020240.1:c.485T>C	XP_016875729.1:p.Ile162Thr
XM_017020241.2:c.602T>C	XP_016875730.1:p.Ile201Thr
XM_017020242.1:c.362T>C	XP_016875731.1:p.Ile121Thr
XM_024449282.1:c.362T>C	XP_024305050.1:p.Ile121Thr