Canonical Allele Identifier: CA8122087

Gene: SLC12A4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67952388G>A , CM000678.2:g.67952388G>A	GRCh38
NC_000016.9:g.67986291G>A , CM000678.1:g.67986291G>A	GRCh37
NC_000016.8:g.66543792G>A	NCBI36
NG_033098.1:g.21307C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005072.5:c.713C>T MANE Select	NP_005063.1:p.Ser238Leu
ENST00000316341.8:c.713C>T MANE Select	ENSP00000318557.3:p.Ser238Leu
NM_001145961.1:c.713C>T	NP_001139433.1:p.Ser238Leu
NM_001145961.2:c.713C>T	NP_001139433.1:p.Ser238Leu
NM_001145962.1:c.719C>T	NP_001139434.1:p.Ser240Leu
NM_001145963.1:c.695C>T	NP_001139435.1:p.Ser232Leu
NM_001145963.2:c.695C>T	NP_001139435.1:p.Ser232Leu
NM_001145964.1:c.620C>T	NP_001139436.1:p.Ser207Leu
NM_001145964.2:c.620C>T	NP_001139436.1:p.Ser207Leu
NM_005072.4:c.713C>T	NP_005063.1:p.Ser238Leu
ENST00000316341.7:c.713C>T	ENSP00000318557.3:p.Ser238Leu
ENST00000422611.6:c.719C>T	ENSP00000395983.2:p.Ser240Leu
ENST00000537830.6:c.695C>T	ENSP00000445962.2:p.Ser232Leu
ENST00000541864.6:c.620C>T	ENSP00000438334.2:p.Ser207Leu
ENST00000541864.7:c.620C>T	ENSP00000438334.2:p.Ser207Leu
ENST00000570802.5:n.713C>T
ENST00000571299.5:c.362C>T	ENSP00000464168.1:p.Ser121Leu
ENST00000572010.5:n.870C>T
ENST00000572010.6:n.870C>T
ENST00000572037.5:c.569C>T	ENSP00000461403.1:p.Ser190Leu
ENST00000573023.6:n.2035C>T
ENST00000576377.1:c.153C>T	ENSP00000458975.1:p.Ile51=
ENST00000576377.2:c.153C>T	ENSP00000458975.1:p.Ile51=
ENST00000576616.5:c.713C>T	ENSP00000458902.1:p.Ser238Leu