Canonical Allele Identifier: CA350550886

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219259744G>C (hg19) ; chr2:g.218395021G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395021G>C , CM000664.2:g.218395021G>C	GRCh38
NC_000002.11:g.219259744G>C , CM000664.1:g.219259744G>C	GRCh37
NC_000002.10:g.218967988G>C	NCBI36
NG_012128.1:g.17993G>C
NG_030418.1:g.1684G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1639G>C MANE Select	ENSP00000233202.6:p.Glu547Gln
ENST00000233202.10:c.1639G>C	ENSP00000233202.6:p.Glu547Gln
ENST00000354352.9:c.*1221G>C	ENSP00000346320.5:n.*1221G>C
ENST00000465984.5:n.2115G>C
ENST00000468221.5:n.4766G>C
NM_000578.3:c.1639G>C	NP_000569.3:p.Glu547Gln
XM_005246793.2:c.1438G>C	XP_005246850.1:p.Glu480Gln
XM_005246794.2:c.1285G>C	XP_005246851.1:p.Glu429Gln
XM_006712709.2:c.1285G>C	XP_006712772.1:p.Glu429Gln
XM_006712710.2:c.1285G>C	XP_006712773.1:p.Glu429Gln
XM_006712711.2:c.1192G>C	XP_006712774.1:p.Glu398Gln
XM_011511684.1:c.1312G>C	XP_011509986.1:p.Glu438Gln
XM_011511685.1:c.1312G>C	XP_011509987.1:p.Glu438Gln
XM_005246793.4:c.1438G>C	XP_005246850.1:p.Glu480Gln
XM_005246794.4:c.1285G>C	XP_005246851.1:p.Glu429Gln
XM_006712709.4:c.1285G>C	XP_006712772.1:p.Glu429Gln
XM_006712710.4:c.1285G>C	XP_006712773.1:p.Glu429Gln
XM_006712711.4:c.1192G>C	XP_006712774.1:p.Glu398Gln
XM_011511684.3:c.1312G>C	XP_011509986.1:p.Glu438Gln
XM_011511685.3:c.1312G>C	XP_011509987.1:p.Glu438Gln
XM_017004765.2:c.1516G>C	XP_016860254.1:p.Glu506Gln
XM_017004766.2:c.1438G>C	XP_016860255.1:p.Glu480Gln
XM_017004767.2:c.1270G>C	XP_016860256.1:p.Glu424Gln
XR_427107.3:n.2654G>C
XR_427108.4:n.2965G>C
NM_000578.4:c.1639G>C MANE Select	NP_000569.3:p.Glu547Gln