Canonical Allele Identifier: CA2579371427

Gene: GALT

Linked Data

• gnomAD v4: 9-34648915-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648915C>G , CM000671.2:g.34648915C>G	GRCh38
NC_000009.11:g.34648912C>G , CM000671.1:g.34648912C>G	GRCh37
NC_000009.10:g.34638912C>G	NCBI36
NG_009029.1:g.7278C>G
NG_028966.1:g.1731C>G
NG_009029.2:g.7327C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+21C>G	ENSP00000509954.1:n.*408+21C>G
ENST00000378842.8:c.820+21C>G MANE Select	ENSP00000368119.4:n.820+21C>G
ENST00000378842.7:c.820+21C>G	ENSP00000368119.3:n.820+21C>G
ENST00000450095.6:c.493+21C>G	ENSP00000401956.2:n.493+21C>G
ENST00000489643.6:n.900+21C>G
ENST00000554085.5:c.*564+21C>G	ENSP00000450419.1:n.*564+21C>G
ENST00000554550.5:c.*440+21C>G	ENSP00000451435.1:n.*440+21C>G
ENST00000554638.5:n.1292+21C>G
ENST00000555020.5:n.1281+21C>G
ENST00000555086.5:n.845C>G
ENST00000555754.1:n.186C>G
ENST00000556278.1:c.432+459C>G	ENSP00000451792.1:n.432+459C>G
ENST00000557706.5:n.1395+8C>G
NM_000155.3:c.820+21C>G	NP_000146.2:n.820+21C>G
NM_001258332.1:c.493+21C>G	NP_001245261.1:n.493+21C>G
NM_000155.4:c.820+21C>G MANE Select	NP_000146.2:n.820+21C>G
NM_001258332.2:c.493+21C>G	NP_001245261.1:n.493+21C>G