Canonical Allele Identifier: CA373278645

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647164A>T (hg19) ; chr9:g.34647167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647167A>T , CM000671.2:g.34647167A>T	GRCh38
NC_000009.11:g.34647164A>T , CM000671.1:g.34647164A>T	GRCh37
NC_000009.10:g.34637164A>T	NCBI36
NG_009029.1:g.5530A>T
NG_009029.2:g.5579A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.161A>T	ENSP00000509954.1:p.Gln54Leu
ENST00000378842.8:c.161A>T MANE Select	ENSP00000368119.4:p.Gln54Leu
ENST00000378842.7:c.161A>T	ENSP00000368119.3:p.Gln54Leu
ENST00000450095.6:c.-42A>T	ENSP00000401956.2:n.-42A>T
ENST00000465543.6:n.500A>T
ENST00000468099.2:n.201A>T
ENST00000472111.5:n.202A>T
ENST00000473506.6:c.161A>T	ENSP00000432839.2:p.Gln54Leu
ENST00000473529.5:n.208A>T
ENST00000485531.1:n.154A>T
ENST00000487381.5:n.187A>T
ENST00000489643.6:n.191A>T
ENST00000554085.5:c.161A>T	ENSP00000450419.1:p.Gln54Leu
ENST00000554139.5:n.214A>T
ENST00000554330.5:n.158A>T
ENST00000554550.5:c.161A>T	ENSP00000451435.1:p.Gln54Leu
ENST00000554638.5:n.185A>T
ENST00000554897.5:c.161A>T	ENSP00000450942.1:p.Gln54Leu
ENST00000554944.5:n.191A>T
ENST00000555020.5:n.191A>T
ENST00000555086.5:n.165A>T
ENST00000555214.5:n.170A>T
ENST00000556157.1:n.268A>T
ENST00000556244.1:c.45A>T
ENST00000556278.1:c.161A>T	ENSP00000451792.1:p.Gln54Leu
ENST00000556403.5:n.174A>T
ENST00000556494.5:n.193A>T
ENST00000557541.5:n.354A>T
ENST00000557706.5:n.275A>T
NM_000155.3:c.161A>T	NP_000146.2:p.Gln54Leu
NM_001258332.1:c.-42A>T	NP_001245261.1:n.-42A>T
NM_000155.4:c.161A>T MANE Select	NP_000146.2:p.Gln54Leu
NM_001258332.2:c.-42A>T	NP_001245261.1:n.-42A>T