Canonical Allele Identifier: CA5036216

Gene: GALT

Linked Data

• dbSNP Id: rs751444719
• ExAC: 9:34648872 G / T
• gnomAD v2: 9-34648872-G-T
• gnomAD v4: 9-34648875-G-T
• MyVariant Identifiers: chr9:g.34648872G>T (hg19) ; chr9:g.34648875G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648875G>T , CM000671.2:g.34648875G>T	GRCh38
NC_000009.11:g.34648872G>T , CM000671.1:g.34648872G>T	GRCh37
NC_000009.10:g.34638872G>T	NCBI36
NG_009029.1:g.7238G>T
NG_028966.1:g.1691G>T
NG_009029.2:g.7287G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*389G>T	ENSP00000509954.1:n.*389G>T
ENST00000378842.8:c.801G>T MANE Select	ENSP00000368119.4:p.Leu267=
ENST00000378842.7:c.801G>T	ENSP00000368119.3:p.Leu267=
ENST00000450095.6:c.474G>T	ENSP00000401956.2:p.Leu158=
ENST00000473506.6:c.*389G>T	ENSP00000432839.2:n.*389G>T
ENST00000489643.6:n.881G>T
ENST00000554085.5:c.*545G>T	ENSP00000450419.1:n.*545G>T
ENST00000554550.5:c.*421G>T	ENSP00000451435.1:n.*421G>T
ENST00000554638.5:n.1273G>T
ENST00000555020.5:n.1262G>T
ENST00000555086.5:n.805G>T
ENST00000555754.1:n.146G>T
ENST00000556244.1:c.788G>T
ENST00000556278.1:c.432+419G>T	ENSP00000451792.1:n.432+419G>T
ENST00000557706.5:n.1363G>T
NM_000155.3:c.801G>T	NP_000146.2:p.Leu267=
NM_001258332.1:c.474G>T	NP_001245261.1:p.Leu158=
NM_000155.4:c.801G>T MANE Select	NP_000146.2:p.Leu267=
NM_001258332.2:c.474G>T	NP_001245261.1:p.Leu158=