Canonical Allele Identifier: CA5036161

Gene: GALT

Linked Data

• dbSNP Id: rs757569550
• ExAC: 9:34648220 C / T
• gnomAD v2: 9-34648220-C-T
• gnomAD v4: 9-34648223-C-T
• MyVariant Identifiers: chr9:g.34648220C>T (hg19) ; chr9:g.34648223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648223C>T , CM000671.2:g.34648223C>T	GRCh38
NC_000009.11:g.34648220C>T , CM000671.1:g.34648220C>T	GRCh37
NC_000009.10:g.34638220C>T	NCBI36
NG_009029.1:g.6586C>T
NG_028966.1:g.1039C>T
NG_009029.2:g.6635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*152+52C>T	ENSP00000509954.1:n.*152+52C>T
ENST00000378842.8:c.564+52C>T MANE Select	ENSP00000368119.4:n.564+52C>T
ENST00000378842.7:c.564+52C>T	ENSP00000368119.3:n.564+52C>T
ENST00000450095.6:c.237+52C>T	ENSP00000401956.2:n.237+52C>T
ENST00000472111.5:n.820+52C>T
ENST00000473506.6:c.*152+52C>T	ENSP00000432839.2:n.*152+52C>T
ENST00000473529.5:n.723+52C>T
ENST00000485531.1:n.1158+52C>T
ENST00000487381.5:n.949+52C>T
ENST00000489643.6:n.339+52C>T
ENST00000554085.5:c.*308+52C>T	ENSP00000450419.1:n.*308+52C>T
ENST00000554139.5:n.810+52C>T
ENST00000554550.5:c.*184+52C>T	ENSP00000451435.1:n.*184+52C>T
ENST00000554638.5:n.1036+52C>T
ENST00000554897.5:c.*251+52C>T	ENSP00000450942.1:n.*251+52C>T
ENST00000554944.5:n.913+52C>T
ENST00000555020.5:n.720+52C>T
ENST00000555086.5:n.568+52C>T
ENST00000555214.5:n.385+52C>T
ENST00000556244.1:c.551+52C>T
ENST00000556278.1:c.309+52C>T	ENSP00000451792.1:n.309+52C>T
ENST00000556494.5:n.685+52C>T
ENST00000557706.5:n.1126+52C>T
NM_000155.3:c.564+52C>T	NP_000146.2:n.564+52C>T
NM_001258332.1:c.237+52C>T	NP_001245261.1:n.237+52C>T
NM_000155.4:c.564+52C>T MANE Select	NP_000146.2:n.564+52C>T
NM_001258332.2:c.237+52C>T	NP_001245261.1:n.237+52C>T