Canonical Allele Identifier: CA373278909

Gene: GALT

Linked Data

• gnomAD v4: 9-34647250-A-G
• MyVariant Identifiers: chr9:g.34647247A>G (hg19) ; chr9:g.34647250A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647250A>G , CM000671.2:g.34647250A>G	GRCh38
NC_000009.11:g.34647247A>G , CM000671.1:g.34647247A>G	GRCh37
NC_000009.10:g.34637247A>G	NCBI36
NG_009029.1:g.5613A>G
NG_028966.1:g.66A>G
NG_009029.2:g.5662A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.244A>G	ENSP00000509954.1:p.Asn82Asp
ENST00000378842.8:c.244A>G MANE Select	ENSP00000368119.4:p.Asn82Asp
ENST00000378842.7:c.244A>G	ENSP00000368119.3:p.Asn82Asp
ENST00000450095.6:c.42A>G	ENSP00000401956.2:p.Pro14=
ENST00000465543.6:n.583A>G
ENST00000468099.2:n.284A>G
ENST00000472111.5:n.285A>G
ENST00000473506.6:c.244A>G	ENSP00000432839.2:p.Asn82Asp
ENST00000473529.5:n.291A>G
ENST00000485531.1:n.237A>G
ENST00000487381.5:n.270A>G
ENST00000489643.6:n.274A>G
ENST00000554085.5:c.244A>G	ENSP00000450419.1:p.Asn82Asp
ENST00000554139.5:n.297A>G
ENST00000554330.5:n.241A>G
ENST00000554550.5:c.244A>G	ENSP00000451435.1:p.Asn82Asp
ENST00000554638.5:n.268A>G
ENST00000554897.5:c.244A>G	ENSP00000450942.1:p.Asn82Asp
ENST00000554944.5:n.274A>G
ENST00000555020.5:n.274A>G
ENST00000555086.5:n.248A>G
ENST00000555214.5:n.253A>G
ENST00000556157.1:n.351A>G
ENST00000556244.1:c.128A>G
ENST00000556278.1:c.244A>G	ENSP00000451792.1:p.Asn82Asp
ENST00000556403.5:n.257A>G
ENST00000556494.5:n.276A>G
ENST00000557541.5:n.437A>G
ENST00000557706.5:n.358A>G
NM_000155.3:c.244A>G	NP_000146.2:p.Asn82Asp
NM_001258332.1:c.42A>G	NP_001245261.1:p.Pro14=
NM_000155.4:c.244A>G MANE Select	NP_000146.2:p.Asn82Asp
NM_001258332.2:c.42A>G	NP_001245261.1:p.Pro14=