Canonical Allele Identifier: CA373282085

Gene: GALT

Linked Data

• gnomAD v4: 9-34648392-C-T
• MyVariant Identifiers: chr9:g.34648389C>T (hg19) ; chr9:g.34648392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648392C>T , CM000671.2:g.34648392C>T	GRCh38
NC_000009.11:g.34648389C>T , CM000671.1:g.34648389C>T	GRCh37
NC_000009.10:g.34638389C>T	NCBI36
NG_009029.1:g.6755C>T
NG_028966.1:g.1208C>T
NG_009029.2:g.6804C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*211C>T	ENSP00000509954.1:n.*211C>T
ENST00000378842.8:c.623C>T MANE Select	ENSP00000368119.4:p.Ala208Val
ENST00000378842.7:c.623C>T	ENSP00000368119.3:p.Ala208Val
ENST00000450095.6:c.296C>T	ENSP00000401956.2:p.Ala99Val
ENST00000472111.5:n.879C>T
ENST00000473506.6:c.*211C>T	ENSP00000432839.2:n.*211C>T
ENST00000473529.5:n.782C>T
ENST00000487381.5:n.1008C>T
ENST00000489643.6:n.398C>T
ENST00000554085.5:c.*367C>T	ENSP00000450419.1:n.*367C>T
ENST00000554550.5:c.*243C>T	ENSP00000451435.1:n.*243C>T
ENST00000554638.5:n.1095C>T
ENST00000555020.5:n.779C>T
ENST00000555086.5:n.627C>T
ENST00000555214.5:n.444C>T
ENST00000556244.1:c.610C>T
ENST00000556278.1:c.368C>T	ENSP00000451792.1:p.Ala123Val
ENST00000556494.5:n.744C>T
ENST00000557706.5:n.1185C>T
NM_000155.3:c.623C>T	NP_000146.2:p.Ala208Val
NM_001258332.1:c.296C>T	NP_001245261.1:p.Ala99Val
NM_000155.4:c.623C>T MANE Select	NP_000146.2:p.Ala208Val
NM_001258332.2:c.296C>T	NP_001245261.1:p.Ala99Val