Canonical Allele Identifier: CA363207775

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26092753A>T , CM000668.2:g.26092753A>T GRCh38
NC_000006.11:g.26092981A>T , CM000668.1:g.26092981A>T GRCh37
NC_000006.10:g.26200960A>T NCBI36
NG_008720.2:g.10473A>T , LRG_748:g.10473A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000485729.2:c.685A>T (HFE) ENSP00000417534.2:p.Asn229Tyr
ENST00000707188.1:c.391-1719T>A (H2BC4) ENSP00000516775.1:n.391-1719T>A
ENST00000357618.10:c.685A>T (HFE) MANE Select ENSP00000417404.1:p.Asn229Tyr
ENST00000309234.10:c.685A>T (HFE) ENSP00000311698.6:p.Asn229Tyr
ENST00000317896.11:c.409A>T (HFE) ENSP00000313776.7:p.Asn137Tyr
ENST00000336625.12:c.367A>T (HFE) ENSP00000337819.8:p.Asn123Tyr
ENST00000349999.8:c.421A>T (HFE) ENSP00000259699.6:p.Asn141Tyr
ENST00000352392.8:c.77-366A>T (HFE) ENSP00000315936.4:n.77-366A>T
ENST00000353147.9:c.145A>T (HFE) ENSP00000312342.5:p.Asn49Tyr
ENST00000357618.9:c.685A>T (HFE) ENSP00000417404.1:p.Asn229Tyr
ENST00000397022.7:c.616A>T (HFE) ENSP00000380217.3:p.Asn206Tyr
ENST00000461397.5:c.643A>T (HFE) ENSP00000420802.1:p.Asn215Tyr
ENST00000470149.5:c.676A>T (HFE) ENSP00000419725.1:p.Asn226Tyr
ENST00000483782.1:n.1016A>T (HFE)
ENST00000486147.1:n.528A>T (HFE)
ENST00000488199.5:c.379A>T (HFE) ENSP00000420559.1:p.Asn127Tyr
ENST00000629531.1:c.132+31020T>A (H2BC3) ENSP00000486472.1:n.132+31020T>A
NM_000410.3:c.685A>T , LRG_748t1:c.685A>T (HFE) NP_000401.1:p.Asn229Tyr
NM_001300749.1:c.685A>T (HFE) NP_001287678.1:p.Asn229Tyr
NM_139003.2:c.367A>T (HFE) NP_620572.1:p.Asn123Tyr
NM_139004.2:c.409A>T (HFE) NP_620573.1:p.Asn137Tyr
NM_139006.2:c.643A>T (HFE) NP_620575.1:p.Asn215Tyr
NM_139007.2:c.421A>T (HFE) NP_620576.1:p.Asn141Tyr
NM_139008.2:c.379A>T (HFE) NP_620577.1:p.Asn127Tyr
NM_139009.2:c.616A>T (HFE) NP_620578.1:p.Asn206Tyr
NM_139010.2:c.145A>T (HFE) NP_620579.1:p.Asn49Tyr
NM_139011.2:c.77-366A>T (HFE) NP_620580.1:n.77-366A>T
XM_011514543.1:c.685A>T (HFE) XP_011512845.1:p.Asn229Tyr
XM_011514544.1:c.676A>T (HFE) XP_011512846.1:p.Asn226Tyr
XR_241893.2:n.807A>T (HFE)
XM_011514543.3:c.685A>T (HFE) XP_011512845.1:p.Asn229Tyr
XR_241893.4:n.779A>T (HFE)
NM_001300749.2:c.685A>T (HFE) NP_001287678.1:p.Asn229Tyr
NM_139003.3:c.367A>T (HFE) NP_620572.1:p.Asn123Tyr
NM_139004.3:c.409A>T (HFE) NP_620573.1:p.Asn137Tyr
NM_139006.3:c.643A>T (HFE) NP_620575.1:p.Asn215Tyr
NM_139007.3:c.421A>T (HFE) NP_620576.1:p.Asn141Tyr
NM_139008.3:c.379A>T (HFE) NP_620577.1:p.Asn127Tyr
NM_139009.3:c.616A>T (HFE) NP_620578.1:p.Asn206Tyr
NM_139010.3:c.145A>T (HFE) NP_620579.1:p.Asn49Tyr
NM_139011.3:c.77-366A>T (HFE) NP_620580.1:n.77-366A>T
NM_000410.4:c.685A>T (HFE) MANE Select NP_000401.1:p.Asn229Tyr
NM_001384164.1:c.685A>T (HFE) NP_001371093.1:p.Asn229Tyr