Canonical Allele Identifier: CA373280356

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647678T>G , CM000671.2:g.34647678T>G	GRCh38
NC_000009.11:g.34647675T>G , CM000671.1:g.34647675T>G	GRCh37
NC_000009.10:g.34637675T>G	NCBI36
NG_009029.1:g.6041T>G
NG_028966.1:g.494T>G
NG_009029.2:g.6090T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.350T>G MANE Select	NP_000146.2:p.Phe117Cys
ENST00000378842.8:c.350T>G MANE Select	ENSP00000368119.4:p.Phe117Cys
NM_000155.3:c.350T>G	NP_000146.2:p.Phe117Cys
NM_001258332.1:c.51-154T>G	NP_001245261.1:n.51-154T>G
NM_001258332.2:c.51-154T>G	NP_001245261.1:n.51-154T>G
ENST00000378842.7:c.350T>G	ENSP00000368119.3:p.Phe117Cys
ENST00000450095.6:c.51-154T>G	ENSP00000401956.2:n.51-154T>G
ENST00000465543.6:n.689T>G
ENST00000472111.5:n.480T>G
ENST00000473506.6:c.301T>G	ENSP00000432839.2:p.Ser101Ala
ENST00000473529.5:n.486T>G
ENST00000485531.1:n.665T>G
ENST00000487381.5:n.609T>G
ENST00000489643.6:n.282+420T>G
ENST00000554085.5:c.*94T>G	ENSP00000450419.1:n.*94T>G
ENST00000554139.5:n.403T>G
ENST00000554330.5:n.387T>G
ENST00000554550.5:c.253-154T>G	ENSP00000451435.1:n.253-154T>G
ENST00000554638.5:n.696T>G
ENST00000554897.5:c.253-154T>G	ENSP00000450942.1:n.253-154T>G
ENST00000554944.5:n.420T>G
ENST00000555020.5:n.380T>G
ENST00000555086.5:n.354T>G
ENST00000555214.5:n.262-370T>G
ENST00000556157.1:n.474T>G
ENST00000556244.1:c.337T>G
ENST00000556278.1:c.252+420T>G	ENSP00000451792.1:n.252+420T>G
ENST00000556403.5:n.452T>G
ENST00000556494.5:n.471T>G
ENST00000557541.5:n.494T>G
ENST00000557706.5:n.786T>G
ENST00000691183.1:c.328+111T>G	ENSP00000509954.1:n.328+111T>G