Canonical Allele Identifier: CA5036038

Gene: GALT

Linked Data

• ClinVar Variation Id: 913655
• ClinVar RCV Id: RCV001167406
• dbSNP Id: rs143994870
• ExAC: 9:34647214 C / T
• gnomAD v2: 9-34647214-C-T
• gnomAD v3: 9-34647217-C-T
• gnomAD v4: 9-34647217-C-T
• MyVariant Identifiers: chr9:g.34647214C>T (hg19) ; chr9:g.34647217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647217C>T , CM000671.2:g.34647217C>T	GRCh38
NC_000009.11:g.34647214C>T , CM000671.1:g.34647214C>T	GRCh37
NC_000009.10:g.34637214C>T	NCBI36
NG_009029.1:g.5580C>T
NG_028966.1:g.33C>T
NG_009029.2:g.5629C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.211C>T	ENSP00000509954.1:p.Leu71Phe
ENST00000378842.8:c.211C>T MANE Select	ENSP00000368119.4:p.Leu71Phe
ENST00000378842.7:c.211C>T	ENSP00000368119.3:p.Leu71Phe
ENST00000450095.6:c.9C>T	ENSP00000401956.2:p.Leu3=
ENST00000465543.6:n.550C>T
ENST00000468099.2:n.251C>T
ENST00000472111.5:n.252C>T
ENST00000473506.6:c.211C>T	ENSP00000432839.2:p.Leu71Phe
ENST00000473529.5:n.258C>T
ENST00000485531.1:n.204C>T
ENST00000487381.5:n.237C>T
ENST00000489643.6:n.241C>T
ENST00000554085.5:c.211C>T	ENSP00000450419.1:p.Leu71Phe
ENST00000554139.5:n.264C>T
ENST00000554330.5:n.208C>T
ENST00000554550.5:c.211C>T	ENSP00000451435.1:p.Leu71Phe
ENST00000554638.5:n.235C>T
ENST00000554897.5:c.211C>T	ENSP00000450942.1:p.Leu71Phe
ENST00000554944.5:n.241C>T
ENST00000555020.5:n.241C>T
ENST00000555086.5:n.215C>T
ENST00000555214.5:n.220C>T
ENST00000556157.1:n.318C>T
ENST00000556244.1:c.95C>T
ENST00000556278.1:c.211C>T	ENSP00000451792.1:p.Leu71Phe
ENST00000556403.5:n.224C>T
ENST00000556494.5:n.243C>T
ENST00000557541.5:n.404C>T
ENST00000557706.5:n.325C>T
NM_000155.3:c.211C>T	NP_000146.2:p.Leu71Phe
NM_001258332.1:c.9C>T	NP_001245261.1:p.Leu3=
NM_000155.4:c.211C>T MANE Select	NP_000146.2:p.Leu71Phe
NM_001258332.2:c.9C>T	NP_001245261.1:p.Leu3=