Canonical Allele Identifier: CA2104776

Gene: SLC11A1

Linked Data

• dbSNP Id: rs755683991
• ExAC: 2:219248959 C / T
• gnomAD v2: 2-219248959-C-T
• gnomAD v3: 2-218384236-C-T
• gnomAD v4: 2-218384236-C-T
• MyVariant Identifiers: chr2:g.219248959C>T (hg19) ; chr2:g.218384236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218384236C>T , CM000664.2:g.218384236C>T	GRCh38
NC_000002.11:g.219248959C>T , CM000664.1:g.219248959C>T	GRCh37
NC_000002.10:g.218957203C>T	NCBI36
NG_012128.1:g.7208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.151-7C>T MANE Select	ENSP00000233202.6:n.151-7C>T
ENST00000233202.10:c.151-7C>T	ENSP00000233202.6:n.151-7C>T
ENST00000354352.9:c.151-7C>T	ENSP00000346320.5:n.151-7C>T
ENST00000465984.5:n.332-911C>T
ENST00000468221.5:n.1624C>T
ENST00000469449.1:n.550C>T
ENST00000469799.5:n.98-911C>T
ENST00000471875.5:n.98-7C>T
ENST00000473367.5:c.151-83C>T	ENSP00000484905.1:n.151-83C>T
ENST00000475225.5:n.186-83C>T
ENST00000481524.5:c.8-911C>T	ENSP00000483970.1:n.8-911C>T
ENST00000483487.2:n.70C>T
ENST00000492413.5:n.233-7C>T
ENST00000494322.5:n.247-7C>T
ENST00000539932.5:c.8-7C>T	ENSP00000443435.2:n.8-7C>T
NM_000578.3:c.151-7C>T	NP_000569.3:n.151-7C>T
XM_005246793.2:c.-51-7C>T	XP_005246850.1:n.-51-7C>T
XM_005246794.2:c.-278-7C>T	XP_005246851.1:n.-278-7C>T
XM_006712709.2:c.-278-7C>T	XP_006712772.1:n.-278-7C>T
XM_006712710.2:c.-155-911C>T	XP_006712773.1:n.-155-911C>T
XM_006712711.2:c.-174-911C>T	XP_006712774.1:n.-174-911C>T
XM_011511684.1:c.-286-7C>T	XP_011509986.1:n.-286-7C>T
XM_011511685.1:c.-286-7C>T	XP_011509987.1:n.-286-7C>T
XR_427107.1:n.314-7C>T
XR_427108.2:n.611-7C>T
XM_005246793.4:c.-51-7C>T	XP_005246850.1:n.-51-7C>T
XM_005246794.4:c.-278-7C>T	XP_005246851.1:n.-278-7C>T
XM_006712709.4:c.-278-7C>T	XP_006712772.1:n.-278-7C>T
XM_006712710.4:c.-155-911C>T	XP_006712773.1:n.-155-911C>T
XM_006712711.4:c.-174-911C>T	XP_006712774.1:n.-174-911C>T
XM_011511684.3:c.-286-7C>T	XP_011509986.1:n.-286-7C>T
XM_011511685.3:c.-286-7C>T	XP_011509987.1:n.-286-7C>T
XM_017004765.2:c.151-911C>T	XP_016860254.1:n.151-911C>T
XM_017004766.2:c.-51-7C>T	XP_016860255.1:n.-51-7C>T
XM_017004767.2:c.151-7C>T	XP_016860256.1:n.151-7C>T
XR_427107.3:n.300-7C>T
XR_427108.4:n.611-7C>T
NM_000578.4:c.151-7C>T MANE Select	NP_000569.3:n.151-7C>T