Canonical Allele Identifier: CA587568177

Gene: GALT

Linked Data

• dbSNP Id: rs1198509254
• gnomAD v2: 9-34647362-C-G
• gnomAD v4: 9-34647365-C-G
• MyVariant Identifiers: chr9:g.34647362C>G (hg19) ; chr9:g.34647365C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647365C>G , CM000671.2:g.34647365C>G	GRCh38
NC_000009.11:g.34647362C>G , CM000671.1:g.34647362C>G	GRCh37
NC_000009.10:g.34637362C>G	NCBI36
NG_009029.1:g.5728C>G
NG_028966.1:g.181C>G
NG_009029.2:g.5777C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.252+107C>G	ENSP00000509954.1:n.252+107C>G
ENST00000378842.8:c.252+107C>G MANE Select	ENSP00000368119.4:n.252+107C>G
ENST00000378842.7:c.252+107C>G	ENSP00000368119.3:n.252+107C>G
ENST00000450095.6:c.50+107C>G	ENSP00000401956.2:n.50+107C>G
ENST00000465543.6:n.591+107C>G
ENST00000468099.2:n.399C>G
ENST00000472111.5:n.293+107C>G
ENST00000473506.6:c.252+107C>G	ENSP00000432839.2:n.252+107C>G
ENST00000473529.5:n.299+107C>G
ENST00000485531.1:n.352C>G
ENST00000487381.5:n.385C>G
ENST00000489643.6:n.282+107C>G
ENST00000554085.5:c.252+107C>G	ENSP00000450419.1:n.252+107C>G
ENST00000554139.5:n.305+107C>G
ENST00000554330.5:n.249+107C>G
ENST00000554550.5:c.252+107C>G	ENSP00000451435.1:n.252+107C>G
ENST00000554638.5:n.383C>G
ENST00000554897.5:c.252+107C>G	ENSP00000450942.1:n.252+107C>G
ENST00000554944.5:n.282+107C>G
ENST00000555020.5:n.282+107C>G
ENST00000555086.5:n.256+107C>G
ENST00000555214.5:n.261+107C>G
ENST00000556157.1:n.359+107C>G
ENST00000556244.1:c.137-24C>G
ENST00000556278.1:c.252+107C>G	ENSP00000451792.1:n.252+107C>G
ENST00000556403.5:n.265+107C>G
ENST00000556494.5:n.284+107C>G
ENST00000557541.5:n.445+107C>G
ENST00000557706.5:n.473C>G
NM_000155.3:c.252+107C>G	NP_000146.2:n.252+107C>G
NM_001258332.1:c.50+107C>G	NP_001245261.1:n.50+107C>G
NM_000155.4:c.252+107C>G MANE Select	NP_000146.2:n.252+107C>G
NM_001258332.2:c.50+107C>G	NP_001245261.1:n.50+107C>G