Canonical Allele Identifier: CA464595612

Gene: GALT

Linked Data

• dbSNP Id: rs1408751205
• gnomAD v2: 9-34647497-C-G
• gnomAD v4: 9-34647500-C-G
• MyVariant Identifiers: chr9:g.34647497C>G (hg19) ; chr9:g.34647500C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647500C>G , CM000671.2:g.34647500C>G	GRCh38
NC_000009.11:g.34647497C>G , CM000671.1:g.34647497C>G	GRCh37
NC_000009.10:g.34637497C>G	NCBI36
NG_009029.1:g.5863C>G
NG_028966.1:g.316C>G
NG_009029.2:g.5912C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.261C>G	ENSP00000509954.1:p.Pro87=
ENST00000378842.8:c.261C>G MANE Select	ENSP00000368119.4:p.Pro87=
ENST00000378842.7:c.261C>G	ENSP00000368119.3:p.Pro87=
ENST00000450095.6:c.50+242C>G	ENSP00000401956.2:n.50+242C>G
ENST00000465543.6:n.600C>G
ENST00000468099.2:n.534C>G
ENST00000472111.5:n.302C>G
ENST00000473506.6:c.253-41C>G	ENSP00000432839.2:n.253-41C>G
ENST00000473529.5:n.308C>G
ENST00000485531.1:n.487C>G
ENST00000487381.5:n.520C>G
ENST00000489643.6:n.282+242C>G
ENST00000554085.5:c.*5C>G	ENSP00000450419.1:n.*5C>G
ENST00000554139.5:n.314C>G
ENST00000554330.5:n.250-41C>G
ENST00000554550.5:c.252+242C>G	ENSP00000451435.1:n.252+242C>G
ENST00000554638.5:n.518C>G
ENST00000554897.5:c.252+242C>G	ENSP00000450942.1:n.252+242C>G
ENST00000554944.5:n.283-41C>G
ENST00000555020.5:n.291C>G
ENST00000555086.5:n.265C>G
ENST00000555214.5:n.261+242C>G
ENST00000556157.1:n.385C>G
ENST00000556244.1:c.248C>G
ENST00000556278.1:c.252+242C>G	ENSP00000451792.1:n.252+242C>G
ENST00000556403.5:n.274C>G
ENST00000556494.5:n.293C>G
ENST00000557541.5:n.446-41C>G
ENST00000557706.5:n.608C>G
NM_000155.3:c.261C>G	NP_000146.2:p.Pro87=
NM_001258332.1:c.50+242C>G	NP_001245261.1:n.50+242C>G
NM_000155.4:c.261C>G MANE Select	NP_000146.2:p.Pro87=
NM_001258332.2:c.50+242C>G	NP_001245261.1:n.50+242C>G