Canonical Allele Identifier: CA350541754

Gene: SLC11A1

Linked Data

• dbSNP Id: rs1168169998
• gnomAD v2: 2-219248975-A-C
• gnomAD v3: 2-218384252-A-C
• gnomAD v4: 2-218384252-A-C
• MyVariant Identifiers: chr2:g.219248975A>C (hg19) ; chr2:g.218384252A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218384252A>C , CM000664.2:g.218384252A>C	GRCh38
NC_000002.11:g.219248975A>C , CM000664.1:g.219248975A>C	GRCh37
NC_000002.10:g.218957219A>C	NCBI36
NG_012128.1:g.7224A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.160A>C MANE Select	ENSP00000233202.6:p.Ser54Arg
ENST00000233202.10:c.160A>C	ENSP00000233202.6:p.Ser54Arg
ENST00000354352.9:c.160A>C	ENSP00000346320.5:p.Ser54Arg
ENST00000465984.5:n.332-895A>C
ENST00000468221.5:n.1640A>C
ENST00000469449.1:n.566A>C
ENST00000469799.5:n.98-895A>C
ENST00000471875.5:n.107A>C
ENST00000473367.5:c.151-67A>C	ENSP00000484905.1:n.151-67A>C
ENST00000475225.5:n.186-67A>C
ENST00000481524.5:c.8-895A>C	ENSP00000483970.1:n.8-895A>C
ENST00000483487.2:n.86A>C
ENST00000492413.5:n.242A>C
ENST00000494322.5:n.256A>C
ENST00000539932.5:c.17A>C	ENSP00000443435.2:p.Gln6Pro
NM_000578.3:c.160A>C	NP_000569.3:p.Ser54Arg
XM_005246793.2:c.-42A>C	XP_005246850.1:n.-42A>C
XM_005246794.2:c.-269A>C	XP_005246851.1:n.-269A>C
XM_006712709.2:c.-269A>C	XP_006712772.1:n.-269A>C
XM_006712710.2:c.-155-895A>C	XP_006712773.1:n.-155-895A>C
XM_006712711.2:c.-174-895A>C	XP_006712774.1:n.-174-895A>C
XM_011511684.1:c.-277A>C	XP_011509986.1:n.-277A>C
XM_011511685.1:c.-277A>C	XP_011509987.1:n.-277A>C
XR_427107.1:n.323A>C
XR_427108.2:n.620A>C
XM_005246793.4:c.-42A>C	XP_005246850.1:n.-42A>C
XM_005246794.4:c.-269A>C	XP_005246851.1:n.-269A>C
XM_006712709.4:c.-269A>C	XP_006712772.1:n.-269A>C
XM_006712710.4:c.-155-895A>C	XP_006712773.1:n.-155-895A>C
XM_006712711.4:c.-174-895A>C	XP_006712774.1:n.-174-895A>C
XM_011511684.3:c.-277A>C	XP_011509986.1:n.-277A>C
XM_011511685.3:c.-277A>C	XP_011509987.1:n.-277A>C
XM_017004765.2:c.151-895A>C	XP_016860254.1:n.151-895A>C
XM_017004766.2:c.-42A>C	XP_016860255.1:n.-42A>C
XM_017004767.2:c.160A>C	XP_016860256.1:p.Ser54Arg
XR_427107.3:n.309A>C
XR_427108.4:n.620A>C
NM_000578.4:c.160A>C MANE Select	NP_000569.3:p.Ser54Arg