Canonical Allele Identifier: CA464403023

Gene: GALT

Linked Data

• dbSNP Id: rs1268964504
• gnomAD v2: 9-34648803-C-T
• gnomAD v4: 9-34648806-C-T
• MyVariant Identifiers: chr9:g.34648803C>T (hg19) ; chr9:g.34648806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648806C>T , CM000671.2:g.34648806C>T	GRCh38
NC_000009.11:g.34648803C>T , CM000671.1:g.34648803C>T	GRCh37
NC_000009.10:g.34638803C>T	NCBI36
NG_009029.1:g.7169C>T
NG_028966.1:g.1622C>T
NG_009029.2:g.7218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*320C>T	ENSP00000509954.1:n.*320C>T
ENST00000378842.8:c.732C>T MANE Select	ENSP00000368119.4:p.Pro244=
ENST00000378842.7:c.732C>T	ENSP00000368119.3:p.Pro244=
ENST00000450095.6:c.405C>T	ENSP00000401956.2:p.Pro135=
ENST00000473506.6:c.*320C>T	ENSP00000432839.2:n.*320C>T
ENST00000473529.5:n.891C>T
ENST00000487381.5:n.1422C>T
ENST00000489643.6:n.812C>T
ENST00000554085.5:c.*476C>T	ENSP00000450419.1:n.*476C>T
ENST00000554550.5:c.*352C>T	ENSP00000451435.1:n.*352C>T
ENST00000554638.5:n.1204C>T
ENST00000555020.5:n.1193C>T
ENST00000555086.5:n.736C>T
ENST00000555754.1:n.77C>T
ENST00000556244.1:c.719C>T
ENST00000556278.1:c.432+350C>T	ENSP00000451792.1:n.432+350C>T
ENST00000557706.5:n.1294C>T
NM_000155.3:c.732C>T	NP_000146.2:p.Pro244=
NM_001258332.1:c.405C>T	NP_001245261.1:p.Pro135=
NM_000155.4:c.732C>T MANE Select	NP_000146.2:p.Pro244=
NM_001258332.2:c.405C>T	NP_001245261.1:p.Pro135=