Canonical Allele Identifier: CA350876832

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227699091C>G , CM000664.2:g.227699091C>G	GRCh38
NC_000002.11:g.228563807C>G , CM000664.1:g.228563807C>G	GRCh37
NC_000002.10:g.228272051C>G	NCBI36
NG_016359.1:g.23939G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.624G>C MANE Select	NP_079519.1:p.Lys208Asn
ENST00000644224.2:c.624G>C MANE Select	ENSP00000495385.1:p.Lys208Asn
NM_001371411.1:c.624G>C	NP_001358340.1:p.Lys208Asn
NM_001371412.1:c.624G>C	NP_001358341.1:p.Lys208Asn
NM_001371413.1:c.612G>C	NP_001358342.1:p.Lys204Asn
NM_001371414.1:c.612G>C	NP_001358343.1:p.Lys204Asn
NM_025243.3:c.624G>C	NP_079519.1:p.Lys208Asn
ENST00000258403.7:c.624G>C	ENSP00000258403.3:p.Lys208Asn
ENST00000258403.8:c.624G>C	ENSP00000258403.3:p.Lys208Asn
ENST00000409287.5:c.259+365G>C	ENSP00000386298.1:n.259+365G>C
ENST00000425817.5:c.624G>C	ENSP00000397393.1:p.Lys208Asn
ENST00000425817.6:c.*649G>C	ENSP00000397393.2:n.*649G>C
ENST00000431622.6:c.*649G>C	ENSP00000400627.1:n.*649G>C
ENST00000642268.1:n.814G>C
ENST00000645700.1:c.151-245G>C	ENSP00000495372.1:n.151-245G>C
ENST00000645923.1:c.309G>C	ENSP00000495010.1:p.Lys103Asn
ENST00000646591.1:c.660G>C	ENSP00000496701.1:p.Lys220Asn
ENST00000647113.1:c.151-3010G>C	ENSP00000494966.1:n.151-3010G>C
ENST00000676066.1:n.354G>C
XM_005246874.2:c.612G>C	XP_005246931.1:p.Lys204Asn
XM_005246874.3:c.612G>C	XP_005246931.1:p.Lys204Asn
XM_006712779.2:c.639G>C	XP_006712842.1:p.Lys213Asn
XM_011511931.1:c.660G>C	XP_011510233.1:p.Lys220Asn
XM_011511931.2:c.660G>C	XP_011510233.1:p.Lys220Asn
XM_011511932.1:c.624G>C	XP_011510234.1:p.Lys208Asn
XM_011511933.1:c.624G>C	XP_011510235.1:p.Lys208Asn
XM_017005030.1:c.864G>C	XP_016860519.1:p.Lys288Asn
XM_017005031.1:c.843G>C	XP_016860520.1:p.Lys281Asn
XM_017005032.1:c.828G>C	XP_016860521.1:p.Lys276Asn
XM_017005033.1:c.828G>C	XP_016860522.1:p.Lys276Asn
XM_017005034.2:c.828G>C	XP_016860523.1:p.Lys276Asn