Canonical Allele Identifier: CA2105423

Gene: SLC11A1

Linked Data

• dbSNP Id: rs376066681
• ExAC: 2:219259665 T / C
• gnomAD v2: 2-219259665-T-C
• gnomAD v3: 2-218394942-T-C
• gnomAD v4: 2-218394942-T-C
• MyVariant Identifiers: chr2:g.219259665T>C (hg19) ; chr2:g.218394942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218394942T>C , CM000664.2:g.218394942T>C	GRCh38
NC_000002.11:g.219259665T>C , CM000664.1:g.219259665T>C	GRCh37
NC_000002.10:g.218967909T>C	NCBI36
NG_012128.1:g.17914T>C
NG_030418.1:g.1605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.1560T>C MANE Select	ENSP00000233202.6:p.Leu520=
ENST00000233202.10:c.1560T>C	ENSP00000233202.6:p.Leu520=
ENST00000354352.9:c.*1142T>C	ENSP00000346320.5:n.*1142T>C
ENST00000465984.5:n.2036T>C
ENST00000468221.5:n.4687T>C
NM_000578.3:c.1560T>C	NP_000569.3:p.Leu520=
XM_005246793.2:c.1359T>C	XP_005246850.1:p.Leu453=
XM_005246794.2:c.1206T>C	XP_005246851.1:p.Leu402=
XM_006712709.2:c.1206T>C	XP_006712772.1:p.Leu402=
XM_006712710.2:c.1206T>C	XP_006712773.1:p.Leu402=
XM_006712711.2:c.1113T>C	XP_006712774.1:p.Leu371=
XM_011511684.1:c.1233T>C	XP_011509986.1:p.Leu411=
XM_011511685.1:c.1233T>C	XP_011509987.1:p.Leu411=
XM_005246793.4:c.1359T>C	XP_005246850.1:p.Leu453=
XM_005246794.4:c.1206T>C	XP_005246851.1:p.Leu402=
XM_006712709.4:c.1206T>C	XP_006712772.1:p.Leu402=
XM_006712710.4:c.1206T>C	XP_006712773.1:p.Leu402=
XM_006712711.4:c.1113T>C	XP_006712774.1:p.Leu371=
XM_011511684.3:c.1233T>C	XP_011509986.1:p.Leu411=
XM_011511685.3:c.1233T>C	XP_011509987.1:p.Leu411=
XM_017004765.2:c.1437T>C	XP_016860254.1:p.Leu479=
XM_017004766.2:c.1359T>C	XP_016860255.1:p.Leu453=
XM_017004767.2:c.1191T>C	XP_016860256.1:p.Leu397=
XR_427107.3:n.2575T>C
XR_427108.4:n.2886T>C
NM_000578.4:c.1560T>C MANE Select	NP_000569.3:p.Leu520=