Canonical Allele Identifier: CA259370

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647669A>T , CM000671.2:g.34647669A>T	GRCh38
NC_000009.11:g.34647666A>T , CM000671.1:g.34647666A>T	GRCh37
NC_000009.10:g.34637666A>T	NCBI36
NG_009029.1:g.6032A>T
NG_028966.1:g.485A>T
NG_009029.2:g.6081A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.341A>T MANE Select	NP_000146.2:p.His114Leu
ENST00000378842.8:c.341A>T MANE Select	ENSP00000368119.4:p.His114Leu
NM_000155.3:c.341A>T	NP_000146.2:p.His114Leu
NM_001258332.1:c.51-163A>T	NP_001245261.1:n.51-163A>T
NM_001258332.2:c.51-163A>T	NP_001245261.1:n.51-163A>T
ENST00000378842.7:c.341A>T	ENSP00000368119.3:p.His114Leu
ENST00000450095.6:c.51-163A>T	ENSP00000401956.2:n.51-163A>T
ENST00000465543.6:n.680A>T
ENST00000472111.5:n.471A>T
ENST00000473506.6:c.292A>T	ENSP00000432839.2:p.Ile98Phe
ENST00000473529.5:n.477A>T
ENST00000485531.1:n.656A>T
ENST00000487381.5:n.600A>T
ENST00000489643.6:n.282+411A>T
ENST00000554085.5:c.*85A>T	ENSP00000450419.1:n.*85A>T
ENST00000554139.5:n.394A>T
ENST00000554330.5:n.378A>T
ENST00000554550.5:c.253-163A>T	ENSP00000451435.1:n.253-163A>T
ENST00000554638.5:n.687A>T
ENST00000554897.5:c.253-163A>T	ENSP00000450942.1:n.253-163A>T
ENST00000554944.5:n.411A>T
ENST00000555020.5:n.371A>T
ENST00000555086.5:n.345A>T
ENST00000555214.5:n.262-379A>T
ENST00000556157.1:n.465A>T
ENST00000556244.1:c.328A>T
ENST00000556278.1:c.252+411A>T	ENSP00000451792.1:n.252+411A>T
ENST00000556403.5:n.443A>T
ENST00000556494.5:n.462A>T
ENST00000557541.5:n.485A>T
ENST00000557706.5:n.777A>T
ENST00000691183.1:c.328+102A>T	ENSP00000509954.1:n.328+102A>T