Canonical Allele Identifier: CA259437

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648163C>T , CM000671.2:g.34648163C>T	GRCh38
NC_000009.11:g.34648160C>T , CM000671.1:g.34648160C>T	GRCh37
NC_000009.10:g.34638160C>T	NCBI36
NG_009029.1:g.6526C>T
NG_028966.1:g.979C>T
NG_009029.2:g.6575C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.556C>T MANE Select	NP_000146.2:p.His186Tyr
ENST00000378842.8:c.556C>T MANE Select	ENSP00000368119.4:p.His186Tyr
NM_000155.3:c.556C>T	NP_000146.2:p.His186Tyr
NM_001258332.1:c.229C>T	NP_001245261.1:p.His77Tyr
NM_001258332.2:c.229C>T	NP_001245261.1:p.His77Tyr
ENST00000378842.7:c.556C>T	ENSP00000368119.3:p.His186Tyr
ENST00000450095.6:c.229C>T	ENSP00000401956.2:p.His77Tyr
ENST00000465543.6:n.895C>T
ENST00000472111.5:n.812C>T
ENST00000473506.6:c.*144C>T	ENSP00000432839.2:n.*144C>T
ENST00000473529.5:n.715C>T
ENST00000485531.1:n.1150C>T
ENST00000487381.5:n.941C>T
ENST00000489643.6:n.331C>T
ENST00000554085.5:c.*300C>T	ENSP00000450419.1:n.*300C>T
ENST00000554139.5:n.802C>T
ENST00000554550.5:c.*176C>T	ENSP00000451435.1:n.*176C>T
ENST00000554638.5:n.1028C>T
ENST00000554897.5:c.*243C>T	ENSP00000450942.1:n.*243C>T
ENST00000554944.5:n.905C>T
ENST00000555020.5:n.712C>T
ENST00000555086.5:n.560C>T
ENST00000555214.5:n.377C>T
ENST00000556244.1:c.543C>T
ENST00000556278.1:c.301C>T	ENSP00000451792.1:p.His101Tyr
ENST00000556494.5:n.677C>T
ENST00000557706.5:n.1118C>T
ENST00000691183.1:c.*144C>T	ENSP00000509954.1:n.*144C>T