Canonical Allele Identifier: CA2689809678

Gene: GALT

Linked Data

• gnomAD v4: 9-34648906-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648906A>C , CM000671.2:g.34648906A>C	GRCh38
NC_000009.11:g.34648903A>C , CM000671.1:g.34648903A>C	GRCh37
NC_000009.10:g.34638903A>C	NCBI36
NG_009029.1:g.7269A>C
NG_028966.1:g.1722A>C
NG_009029.2:g.7318A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+12A>C	ENSP00000509954.1:n.*408+12A>C
ENST00000378842.8:c.820+12A>C MANE Select	ENSP00000368119.4:n.820+12A>C
ENST00000378842.7:c.820+12A>C	ENSP00000368119.3:n.820+12A>C
ENST00000450095.6:c.493+12A>C	ENSP00000401956.2:n.493+12A>C
ENST00000489643.6:n.900+12A>C
ENST00000554085.5:c.*564+12A>C	ENSP00000450419.1:n.*564+12A>C
ENST00000554550.5:c.*440+12A>C	ENSP00000451435.1:n.*440+12A>C
ENST00000554638.5:n.1292+12A>C
ENST00000555020.5:n.1281+12A>C
ENST00000555086.5:n.836A>C
ENST00000555754.1:n.177A>C
ENST00000556278.1:c.432+450A>C	ENSP00000451792.1:n.432+450A>C
ENST00000557706.5:n.1394A>C
NM_000155.3:c.820+12A>C	NP_000146.2:n.820+12A>C
NM_001258332.1:c.493+12A>C	NP_001245261.1:n.493+12A>C
NM_000155.4:c.820+12A>C MANE Select	NP_000146.2:n.820+12A>C
NM_001258332.2:c.493+12A>C	NP_001245261.1:n.493+12A>C