Canonical Allele Identifier: CA373282095

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648392A>T (hg19) ; chr9:g.34648395A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648395A>T , CM000671.2:g.34648395A>T	GRCh38
NC_000009.11:g.34648392A>T , CM000671.1:g.34648392A>T	GRCh37
NC_000009.10:g.34638392A>T	NCBI36
NG_009029.1:g.6758A>T
NG_028966.1:g.1211A>T
NG_009029.2:g.6807A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*214A>T	ENSP00000509954.1:n.*214A>T
ENST00000378842.8:c.626A>T MANE Select	ENSP00000368119.4:p.Tyr209Phe
ENST00000378842.7:c.626A>T	ENSP00000368119.3:p.Tyr209Phe
ENST00000450095.6:c.299A>T	ENSP00000401956.2:p.Tyr100Phe
ENST00000472111.5:n.882A>T
ENST00000473506.6:c.*214A>T	ENSP00000432839.2:n.*214A>T
ENST00000473529.5:n.785A>T
ENST00000487381.5:n.1011A>T
ENST00000489643.6:n.401A>T
ENST00000554085.5:c.*370A>T	ENSP00000450419.1:n.*370A>T
ENST00000554550.5:c.*246A>T	ENSP00000451435.1:n.*246A>T
ENST00000554638.5:n.1098A>T
ENST00000555020.5:n.782A>T
ENST00000555086.5:n.630A>T
ENST00000555214.5:n.447A>T
ENST00000556244.1:c.613A>T
ENST00000556278.1:c.371A>T	ENSP00000451792.1:p.Tyr124Phe
ENST00000556494.5:n.747A>T
ENST00000557706.5:n.1188A>T
NM_000155.3:c.626A>T	NP_000146.2:p.Tyr209Phe
NM_001258332.1:c.299A>T	NP_001245261.1:p.Tyr100Phe
NM_000155.4:c.626A>T MANE Select	NP_000146.2:p.Tyr209Phe
NM_001258332.2:c.299A>T	NP_001245261.1:p.Tyr100Phe