Canonical Allele Identifier: CA350550663

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219259654A>C (hg19) ; chr2:g.218394931A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218394931A>C , CM000664.2:g.218394931A>C	GRCh38
NC_000002.11:g.219259654A>C , CM000664.1:g.219259654A>C	GRCh37
NC_000002.10:g.218967898A>C	NCBI36
NG_012128.1:g.17903A>C
NG_030418.1:g.1594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.1549A>C MANE Select	ENSP00000233202.6:p.Thr517Pro
ENST00000233202.10:c.1549A>C	ENSP00000233202.6:p.Thr517Pro
ENST00000354352.9:c.*1131A>C	ENSP00000346320.5:n.*1131A>C
ENST00000465984.5:n.2025A>C
ENST00000468221.5:n.4676A>C
NM_000578.3:c.1549A>C	NP_000569.3:p.Thr517Pro
XM_005246793.2:c.1348A>C	XP_005246850.1:p.Thr450Pro
XM_005246794.2:c.1195A>C	XP_005246851.1:p.Thr399Pro
XM_006712709.2:c.1195A>C	XP_006712772.1:p.Thr399Pro
XM_006712710.2:c.1195A>C	XP_006712773.1:p.Thr399Pro
XM_006712711.2:c.1102A>C	XP_006712774.1:p.Thr368Pro
XM_011511684.1:c.1222A>C	XP_011509986.1:p.Thr408Pro
XM_011511685.1:c.1222A>C	XP_011509987.1:p.Thr408Pro
XM_005246793.4:c.1348A>C	XP_005246850.1:p.Thr450Pro
XM_005246794.4:c.1195A>C	XP_005246851.1:p.Thr399Pro
XM_006712709.4:c.1195A>C	XP_006712772.1:p.Thr399Pro
XM_006712710.4:c.1195A>C	XP_006712773.1:p.Thr399Pro
XM_006712711.4:c.1102A>C	XP_006712774.1:p.Thr368Pro
XM_011511684.3:c.1222A>C	XP_011509986.1:p.Thr408Pro
XM_011511685.3:c.1222A>C	XP_011509987.1:p.Thr408Pro
XM_017004765.2:c.1426A>C	XP_016860254.1:p.Thr476Pro
XM_017004766.2:c.1348A>C	XP_016860255.1:p.Thr450Pro
XM_017004767.2:c.1180A>C	XP_016860256.1:p.Thr394Pro
XR_427107.3:n.2564A>C
XR_427108.4:n.2875A>C
NM_000578.4:c.1549A>C MANE Select	NP_000569.3:p.Thr517Pro