Canonical Allele Identifier: CA5035989
Community Standard Title: NM_000155.4(GALT):c.30A>G (p.Gln10=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646734A>G , CM000671.2:g.34646734A>G GRCh38
NC_000009.11:g.34646731A>G , CM000671.1:g.34646731A>G GRCh37
NC_000009.10:g.34636731A>G NCBI36
NG_009029.1:g.5097A>G
NG_009029.2:g.5146A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.30A>G MANE Select NP_000146.2:p.Gln10=
ENST00000378842.8:c.30A>G MANE Select ENSP00000368119.4:p.Gln10=
NM_000155.3:c.30A>G NP_000146.2:p.Gln10=
NM_001258332.1:c.-173A>G NP_001245261.1:n.-173A>G
NM_001258332.2:c.-173A>G NP_001245261.1:n.-173A>G
ENST00000378842.7:c.30A>G ENSP00000368119.3:p.Gln10=
ENST00000450095.6:c.-173A>G ENSP00000401956.2:n.-173A>G
ENST00000465543.6:n.67A>G
ENST00000468099.2:n.102A>G
ENST00000472111.5:n.71A>G
ENST00000473506.6:c.30A>G ENSP00000432839.2:p.Gln10=
ENST00000473529.5:n.77A>G
ENST00000487381.5:n.56A>G
ENST00000489643.6:n.60A>G
ENST00000554085.5:c.30A>G ENSP00000450419.1:p.Gln10=
ENST00000554139.5:n.83A>G
ENST00000554550.5:c.30A>G ENSP00000451435.1:p.Gln10=
ENST00000554638.5:n.54A>G
ENST00000554897.5:c.30A>G ENSP00000450942.1:p.Gln10=
ENST00000554944.5:n.60A>G
ENST00000555020.5:n.60A>G
ENST00000555214.5:n.39A>G
ENST00000556278.1:c.30A>G ENSP00000451792.1:p.Gln10=
ENST00000557541.5:n.90A>G
ENST00000605275.1:n.266A>G
ENST00000691183.1:c.30A>G ENSP00000509954.1:p.Gln10=