Canonical Allele Identifier: CA5035983

Gene: GALT

Linked Data

• dbSNP Id: rs772918156
• ExAC: 9:34646706 C / T
• gnomAD v2: 9-34646706-C-T
• gnomAD v3: 9-34646709-C-T
• gnomAD v4: 9-34646709-C-T
• MyVariant Identifiers: chr9:g.34646706C>T (hg19) ; chr9:g.34646709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646709C>T , CM000671.2:g.34646709C>T	GRCh38
NC_000009.11:g.34646706C>T , CM000671.1:g.34646706C>T	GRCh37
NC_000009.10:g.34636706C>T	NCBI36
NG_009029.1:g.5072C>T
NG_009029.2:g.5121C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.5C>T	ENSP00000509954.1:p.Ser2Leu
ENST00000378842.8:c.5C>T MANE Select	ENSP00000368119.4:p.Ser2Leu
ENST00000378842.7:c.5C>T	ENSP00000368119.3:p.Ser2Leu
ENST00000450095.6:c.-198C>T	ENSP00000401956.2:n.-198C>T
ENST00000465543.6:n.42C>T
ENST00000468099.2:n.77C>T
ENST00000472111.5:n.46C>T
ENST00000473506.6:c.5C>T	ENSP00000432839.2:p.Ser2Leu
ENST00000473529.5:n.52C>T
ENST00000487381.5:n.31C>T
ENST00000489643.6:n.35C>T
ENST00000554085.5:c.5C>T	ENSP00000450419.1:p.Ser2Leu
ENST00000554139.5:n.58C>T
ENST00000554550.5:c.5C>T	ENSP00000451435.1:p.Ser2Leu
ENST00000554638.5:n.29C>T
ENST00000554897.5:c.5C>T	ENSP00000450942.1:p.Ser2Leu
ENST00000554944.5:n.35C>T
ENST00000555020.5:n.35C>T
ENST00000555214.5:n.14C>T
ENST00000556278.1:c.5C>T	ENSP00000451792.1:p.Ser2Leu
ENST00000557541.5:n.65C>T
ENST00000605275.1:n.241C>T
NM_000155.3:c.5C>T	NP_000146.2:p.Ser2Leu
NM_001258332.1:c.-198C>T	NP_001245261.1:n.-198C>T
NM_000155.4:c.5C>T MANE Select	NP_000146.2:p.Ser2Leu
NM_001258332.2:c.-198C>T	NP_001245261.1:n.-198C>T