Canonical Allele Identifier: CA350550675

Gene: SLC11A1

Linked Data

• gnomAD v4: 2-218394936-T-G
• MyVariant Identifiers: chr2:g.219259659T>G (hg19) ; chr2:g.218394936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218394936T>G , CM000664.2:g.218394936T>G	GRCh38
NC_000002.11:g.219259659T>G , CM000664.1:g.219259659T>G	GRCh37
NC_000002.10:g.218967903T>G	NCBI36
NG_012128.1:g.17908T>G
NG_030418.1:g.1599T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.1554T>G MANE Select	ENSP00000233202.6:p.Cys518Trp
ENST00000233202.10:c.1554T>G	ENSP00000233202.6:p.Cys518Trp
ENST00000354352.9:c.*1136T>G	ENSP00000346320.5:n.*1136T>G
ENST00000465984.5:n.2030T>G
ENST00000468221.5:n.4681T>G
NM_000578.3:c.1554T>G	NP_000569.3:p.Cys518Trp
XM_005246793.2:c.1353T>G	XP_005246850.1:p.Cys451Trp
XM_005246794.2:c.1200T>G	XP_005246851.1:p.Cys400Trp
XM_006712709.2:c.1200T>G	XP_006712772.1:p.Cys400Trp
XM_006712710.2:c.1200T>G	XP_006712773.1:p.Cys400Trp
XM_006712711.2:c.1107T>G	XP_006712774.1:p.Cys369Trp
XM_011511684.1:c.1227T>G	XP_011509986.1:p.Cys409Trp
XM_011511685.1:c.1227T>G	XP_011509987.1:p.Cys409Trp
XM_005246793.4:c.1353T>G	XP_005246850.1:p.Cys451Trp
XM_005246794.4:c.1200T>G	XP_005246851.1:p.Cys400Trp
XM_006712709.4:c.1200T>G	XP_006712772.1:p.Cys400Trp
XM_006712710.4:c.1200T>G	XP_006712773.1:p.Cys400Trp
XM_006712711.4:c.1107T>G	XP_006712774.1:p.Cys369Trp
XM_011511684.3:c.1227T>G	XP_011509986.1:p.Cys409Trp
XM_011511685.3:c.1227T>G	XP_011509987.1:p.Cys409Trp
XM_017004765.2:c.1431T>G	XP_016860254.1:p.Cys477Trp
XM_017004766.2:c.1353T>G	XP_016860255.1:p.Cys451Trp
XM_017004767.2:c.1185T>G	XP_016860256.1:p.Cys395Trp
XR_427107.3:n.2569T>G
XR_427108.4:n.2880T>G
NM_000578.4:c.1554T>G MANE Select	NP_000569.3:p.Cys518Trp