Canonical Allele Identifier: CA464595782

Gene: GALT

Linked Data

• dbSNP Id: rs1821124496
• gnomAD v4: 9-34647192-G-T
• MyVariant Identifiers: chr9:g.34647189G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647192G>T , CM000671.2:g.34647192G>T	GRCh38
NC_000009.11:g.34647189G>T , CM000671.1:g.34647189G>T	GRCh37
NC_000009.10:g.34637189G>T	NCBI36
NG_009029.1:g.5555G>T
NG_028966.1:g.8G>T
NG_009029.2:g.5604G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.186G>T	ENSP00000509954.1:p.Leu62=
ENST00000378842.8:c.186G>T MANE Select	ENSP00000368119.4:p.Leu62=
ENST00000378842.7:c.186G>T	ENSP00000368119.3:p.Leu62=
ENST00000450095.6:c.-17G>T	ENSP00000401956.2:n.-17G>T
ENST00000465543.6:n.525G>T
ENST00000468099.2:n.226G>T
ENST00000472111.5:n.227G>T
ENST00000473506.6:c.186G>T	ENSP00000432839.2:p.Leu62=
ENST00000473529.5:n.233G>T
ENST00000485531.1:n.179G>T
ENST00000487381.5:n.212G>T
ENST00000489643.6:n.216G>T
ENST00000554085.5:c.186G>T	ENSP00000450419.1:p.Leu62=
ENST00000554139.5:n.239G>T
ENST00000554330.5:n.183G>T
ENST00000554550.5:c.186G>T	ENSP00000451435.1:p.Leu62=
ENST00000554638.5:n.210G>T
ENST00000554897.5:c.186G>T	ENSP00000450942.1:p.Leu62=
ENST00000554944.5:n.216G>T
ENST00000555020.5:n.216G>T
ENST00000555086.5:n.190G>T
ENST00000555214.5:n.195G>T
ENST00000556157.1:n.293G>T
ENST00000556244.1:c.70G>T
ENST00000556278.1:c.186G>T	ENSP00000451792.1:p.Leu62=
ENST00000556403.5:n.199G>T
ENST00000556494.5:n.218G>T
ENST00000557541.5:n.379G>T
ENST00000557706.5:n.300G>T
NM_000155.3:c.186G>T	NP_000146.2:p.Leu62=
NM_001258332.1:c.-17G>T	NP_001245261.1:n.-17G>T
NM_000155.4:c.186G>T MANE Select	NP_000146.2:p.Leu62=
NM_001258332.2:c.-17G>T	NP_001245261.1:n.-17G>T