Canonical Allele Identifier: CA373281955

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648358A>T (hg19) ; chr9:g.34648361A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648361A>T , CM000671.2:g.34648361A>T	GRCh38
NC_000009.11:g.34648358A>T , CM000671.1:g.34648358A>T	GRCh37
NC_000009.10:g.34638358A>T	NCBI36
NG_009029.1:g.6724A>T
NG_028966.1:g.1177A>T
NG_009029.2:g.6773A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*180A>T	ENSP00000509954.1:n.*180A>T
ENST00000378842.8:c.592A>T MANE Select	ENSP00000368119.4:p.Ile198Phe
ENST00000378842.7:c.592A>T	ENSP00000368119.3:p.Ile198Phe
ENST00000450095.6:c.265A>T	ENSP00000401956.2:p.Ile89Phe
ENST00000472111.5:n.848A>T
ENST00000473506.6:c.*180A>T	ENSP00000432839.2:n.*180A>T
ENST00000473529.5:n.751A>T
ENST00000485531.1:n.1186A>T
ENST00000487381.5:n.977A>T
ENST00000489643.6:n.367A>T
ENST00000554085.5:c.*336A>T	ENSP00000450419.1:n.*336A>T
ENST00000554139.5:n.838A>T
ENST00000554550.5:c.*212A>T	ENSP00000451435.1:n.*212A>T
ENST00000554638.5:n.1064A>T
ENST00000554897.5:c.*279A>T	ENSP00000450942.1:n.*279A>T
ENST00000554944.5:n.941A>T
ENST00000555020.5:n.748A>T
ENST00000555086.5:n.596A>T
ENST00000555214.5:n.413A>T
ENST00000556244.1:c.579A>T
ENST00000556278.1:c.337A>T	ENSP00000451792.1:p.Ile113Phe
ENST00000556494.5:n.713A>T
ENST00000557706.5:n.1154A>T
NM_000155.3:c.592A>T	NP_000146.2:p.Ile198Phe
NM_001258332.1:c.265A>T	NP_001245261.1:p.Ile89Phe
NM_000155.4:c.592A>T MANE Select	NP_000146.2:p.Ile198Phe
NM_001258332.2:c.265A>T	NP_001245261.1:p.Ile89Phe