Canonical Allele Identifier: CA2105433

Gene: SLC11A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395009G>C , CM000664.2:g.218395009G>C	GRCh38
NC_000002.11:g.219259732G>C , CM000664.1:g.219259732G>C	GRCh37
NC_000002.10:g.218967976G>C	NCBI36
NG_012128.1:g.17981G>C
NG_030418.1:g.1672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.1627G>C MANE Select	ENSP00000233202.6:p.Asp543His
ENST00000233202.10:c.1627G>C	ENSP00000233202.6:p.Asp543His
ENST00000354352.9:c.*1209G>C	ENSP00000346320.5:n.*1209G>C
ENST00000465984.5:n.2103G>C
ENST00000468221.5:n.4754G>C
NM_000578.3:c.1627G>C	NP_000569.3:p.Asp543His
XM_005246793.2:c.1426G>C	XP_005246850.1:p.Asp476His
XM_005246794.2:c.1273G>C	XP_005246851.1:p.Asp425His
XM_006712709.2:c.1273G>C	XP_006712772.1:p.Asp425His
XM_006712710.2:c.1273G>C	XP_006712773.1:p.Asp425His
XM_006712711.2:c.1180G>C	XP_006712774.1:p.Asp394His
XM_011511684.1:c.1300G>C	XP_011509986.1:p.Asp434His
XM_011511685.1:c.1300G>C	XP_011509987.1:p.Asp434His
XM_005246793.4:c.1426G>C	XP_005246850.1:p.Asp476His
XM_005246794.4:c.1273G>C	XP_005246851.1:p.Asp425His
XM_006712709.4:c.1273G>C	XP_006712772.1:p.Asp425His
XM_006712710.4:c.1273G>C	XP_006712773.1:p.Asp425His
XM_006712711.4:c.1180G>C	XP_006712774.1:p.Asp394His
XM_011511684.3:c.1300G>C	XP_011509986.1:p.Asp434His
XM_011511685.3:c.1300G>C	XP_011509987.1:p.Asp434His
XM_017004765.2:c.1504G>C	XP_016860254.1:p.Asp502His
XM_017004766.2:c.1426G>C	XP_016860255.1:p.Asp476His
XM_017004767.2:c.1258G>C	XP_016860256.1:p.Asp420His
XR_427107.3:n.2642G>C
XR_427108.4:n.2953G>C
NM_000578.4:c.1627G>C MANE Select	NP_000569.3:p.Asp543His