Canonical Allele Identifier: CA373281334

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648116T>G (hg19) ; chr9:g.34648119T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648119T>G , CM000671.2:g.34648119T>G	GRCh38
NC_000009.11:g.34648116T>G , CM000671.1:g.34648116T>G	GRCh37
NC_000009.10:g.34638116T>G	NCBI36
NG_009029.1:g.6482T>G
NG_028966.1:g.935T>G
NG_009029.2:g.6531T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*100T>G	ENSP00000509954.1:n.*100T>G
ENST00000378842.8:c.512T>G MANE Select	ENSP00000368119.4:p.Phe171Cys
ENST00000378842.7:c.512T>G	ENSP00000368119.3:p.Phe171Cys
ENST00000450095.6:c.185T>G	ENSP00000401956.2:p.Phe62Cys
ENST00000465543.6:n.851T>G
ENST00000472111.5:n.768T>G
ENST00000473506.6:c.*100T>G	ENSP00000432839.2:n.*100T>G
ENST00000473529.5:n.671T>G
ENST00000485531.1:n.1106T>G
ENST00000487381.5:n.897T>G
ENST00000489643.6:n.287T>G
ENST00000554085.5:c.*256T>G	ENSP00000450419.1:n.*256T>G
ENST00000554139.5:n.758T>G
ENST00000554550.5:c.*132T>G	ENSP00000451435.1:n.*132T>G
ENST00000554638.5:n.984T>G
ENST00000554897.5:c.*199T>G	ENSP00000450942.1:n.*199T>G
ENST00000554944.5:n.861T>G
ENST00000555020.5:n.668T>G
ENST00000555086.5:n.516T>G
ENST00000555214.5:n.333T>G
ENST00000556244.1:c.499T>G
ENST00000556278.1:c.257T>G	ENSP00000451792.1:p.Phe86Cys
ENST00000556494.5:n.633T>G
ENST00000557706.5:n.1074T>G
NM_000155.3:c.512T>G	NP_000146.2:p.Phe171Cys
NM_001258332.1:c.185T>G	NP_001245261.1:p.Phe62Cys
NM_000155.4:c.512T>G MANE Select	NP_000146.2:p.Phe171Cys
NM_001258332.2:c.185T>G	NP_001245261.1:p.Phe62Cys