Canonical Allele Identifier: CA373280430

Gene: GALT

Linked Data

• gnomAD v4: 9-34647696-G-C
• MyVariant Identifiers: chr9:g.34647693G>C (hg19) ; chr9:g.34647696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647696G>C , CM000671.2:g.34647696G>C	GRCh38
NC_000009.11:g.34647693G>C , CM000671.1:g.34647693G>C	GRCh37
NC_000009.10:g.34637693G>C	NCBI36
NG_009029.1:g.6059G>C
NG_028966.1:g.512G>C
NG_009029.2:g.6108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+129G>C	ENSP00000509954.1:n.328+129G>C
ENST00000378842.8:c.368G>C MANE Select	ENSP00000368119.4:p.Arg123Pro
ENST00000378842.7:c.368G>C	ENSP00000368119.3:p.Arg123Pro
ENST00000450095.6:c.51-136G>C	ENSP00000401956.2:n.51-136G>C
ENST00000465543.6:n.707G>C
ENST00000472111.5:n.498G>C
ENST00000473506.6:c.319G>C	ENSP00000432839.2:p.Glu107Gln
ENST00000473529.5:n.504G>C
ENST00000485531.1:n.683G>C
ENST00000487381.5:n.627G>C
ENST00000489643.6:n.283-419G>C
ENST00000554085.5:c.*112G>C	ENSP00000450419.1:n.*112G>C
ENST00000554139.5:n.421G>C
ENST00000554330.5:n.405G>C
ENST00000554550.5:c.253-136G>C	ENSP00000451435.1:n.253-136G>C
ENST00000554638.5:n.714G>C
ENST00000554897.5:c.253-136G>C	ENSP00000450942.1:n.253-136G>C
ENST00000554944.5:n.438G>C
ENST00000555020.5:n.398G>C
ENST00000555086.5:n.372G>C
ENST00000555214.5:n.262-352G>C
ENST00000556157.1:n.492G>C
ENST00000556244.1:c.355G>C
ENST00000556278.1:c.253-419G>C	ENSP00000451792.1:n.253-419G>C
ENST00000556403.5:n.470G>C
ENST00000556494.5:n.489G>C
ENST00000557541.5:n.512G>C
ENST00000557706.5:n.804G>C
NM_000155.3:c.368G>C	NP_000146.2:p.Arg123Pro
NM_001258332.1:c.51-136G>C	NP_001245261.1:n.51-136G>C
NM_000155.4:c.368G>C MANE Select	NP_000146.2:p.Arg123Pro
NM_001258332.2:c.51-136G>C	NP_001245261.1:n.51-136G>C