Canonical Allele Identifier: CA431224271

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219259749C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395026C>G , CM000664.2:g.218395026C>G	GRCh38
NC_000002.11:g.219259749C>G , CM000664.1:g.219259749C>G	GRCh37
NC_000002.10:g.218967993C>G	NCBI36
NG_012128.1:g.17998C>G
NG_030418.1:g.1689C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1644C>G MANE Select	ENSP00000233202.6:p.Thr548=
ENST00000233202.10:c.1644C>G	ENSP00000233202.6:p.Thr548=
ENST00000354352.9:c.*1226C>G	ENSP00000346320.5:n.*1226C>G
ENST00000465984.5:n.2120C>G
ENST00000468221.5:n.4771C>G
NM_000578.3:c.1644C>G	NP_000569.3:p.Thr548=
XM_005246793.2:c.1443C>G	XP_005246850.1:p.Thr481=
XM_005246794.2:c.1290C>G	XP_005246851.1:p.Thr430=
XM_006712709.2:c.1290C>G	XP_006712772.1:p.Thr430=
XM_006712710.2:c.1290C>G	XP_006712773.1:p.Thr430=
XM_006712711.2:c.1197C>G	XP_006712774.1:p.Thr399=
XM_011511684.1:c.1317C>G	XP_011509986.1:p.Thr439=
XM_011511685.1:c.1317C>G	XP_011509987.1:p.Thr439=
XM_005246793.4:c.1443C>G	XP_005246850.1:p.Thr481=
XM_005246794.4:c.1290C>G	XP_005246851.1:p.Thr430=
XM_006712709.4:c.1290C>G	XP_006712772.1:p.Thr430=
XM_006712710.4:c.1290C>G	XP_006712773.1:p.Thr430=
XM_006712711.4:c.1197C>G	XP_006712774.1:p.Thr399=
XM_011511684.3:c.1317C>G	XP_011509986.1:p.Thr439=
XM_011511685.3:c.1317C>G	XP_011509987.1:p.Thr439=
XM_017004765.2:c.1521C>G	XP_016860254.1:p.Thr507=
XM_017004766.2:c.1443C>G	XP_016860255.1:p.Thr481=
XM_017004767.2:c.1275C>G	XP_016860256.1:p.Thr425=
XR_427107.3:n.2659C>G
XR_427108.4:n.2970C>G
NM_000578.4:c.1644C>G MANE Select	NP_000569.3:p.Thr548=