Canonical Allele Identifier: CA2579371424

Gene: GALT

Linked Data

• gnomAD v4: 9-34648901-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648901C>T , CM000671.2:g.34648901C>T	GRCh38
NC_000009.11:g.34648898C>T , CM000671.1:g.34648898C>T	GRCh37
NC_000009.10:g.34638898C>T	NCBI36
NG_009029.1:g.7264C>T
NG_028966.1:g.1717C>T
NG_009029.2:g.7313C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+7C>T	ENSP00000509954.1:n.*408+7C>T
ENST00000378842.8:c.820+7C>T MANE Select	ENSP00000368119.4:n.820+7C>T
ENST00000378842.7:c.820+7C>T	ENSP00000368119.3:n.820+7C>T
ENST00000450095.6:c.493+7C>T	ENSP00000401956.2:n.493+7C>T
ENST00000489643.6:n.900+7C>T
ENST00000554085.5:c.*564+7C>T	ENSP00000450419.1:n.*564+7C>T
ENST00000554550.5:c.*440+7C>T	ENSP00000451435.1:n.*440+7C>T
ENST00000554638.5:n.1292+7C>T
ENST00000555020.5:n.1281+7C>T
ENST00000555086.5:n.831C>T
ENST00000555754.1:n.172C>T
ENST00000556278.1:c.432+445C>T	ENSP00000451792.1:n.432+445C>T
ENST00000557706.5:n.1389C>T
NM_000155.3:c.820+7C>T	NP_000146.2:n.820+7C>T
NM_001258332.1:c.493+7C>T	NP_001245261.1:n.493+7C>T
NM_000155.4:c.820+7C>T MANE Select	NP_000146.2:n.820+7C>T
NM_001258332.2:c.493+7C>T	NP_001245261.1:n.493+7C>T