Canonical Allele Identifier: CA373283529

Gene: GALT

Linked Data

• gnomAD v4: 9-34648791-G-A
• MyVariant Identifiers: chr9:g.34648788G>A (hg19) ; chr9:g.34648791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648791G>A , CM000671.2:g.34648791G>A	GRCh38
NC_000009.11:g.34648788G>A , CM000671.1:g.34648788G>A	GRCh37
NC_000009.10:g.34638788G>A	NCBI36
NG_009029.1:g.7154G>A
NG_028966.1:g.1607G>A
NG_009029.2:g.7203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*305G>A	ENSP00000509954.1:n.*305G>A
ENST00000378842.8:c.717G>A MANE Select	ENSP00000368119.4:p.Trp239Ter
ENST00000378842.7:c.717G>A	ENSP00000368119.3:p.Trp239Ter
ENST00000450095.6:c.390G>A	ENSP00000401956.2:p.Trp130Ter
ENST00000473506.6:c.*305G>A	ENSP00000432839.2:n.*305G>A
ENST00000473529.5:n.876G>A
ENST00000487381.5:n.1407G>A
ENST00000489643.6:n.797G>A
ENST00000554085.5:c.*461G>A	ENSP00000450419.1:n.*461G>A
ENST00000554550.5:c.*337G>A	ENSP00000451435.1:n.*337G>A
ENST00000554638.5:n.1189G>A
ENST00000555020.5:n.1178G>A
ENST00000555086.5:n.721G>A
ENST00000555754.1:n.62G>A
ENST00000556244.1:c.704G>A
ENST00000556278.1:c.432+335G>A	ENSP00000451792.1:n.432+335G>A
ENST00000557706.5:n.1279G>A
NM_000155.3:c.717G>A	NP_000146.2:p.Trp239Ter
NM_001258332.1:c.390G>A	NP_001245261.1:p.Trp130Ter
NM_000155.4:c.717G>A MANE Select	NP_000146.2:p.Trp239Ter
NM_001258332.2:c.390G>A	NP_001245261.1:p.Trp130Ter