Canonical Allele Identifier: CA373278748

Gene: GALT

Linked Data

• ClinVar Variation Id: 2816388
• ClinVar RCV Id: RCV003610221
• MyVariant Identifiers: chr9:g.34647213T>C (hg19) ; chr9:g.34647216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647216T>C , CM000671.2:g.34647216T>C	GRCh38
NC_000009.11:g.34647213T>C , CM000671.1:g.34647213T>C	GRCh37
NC_000009.10:g.34637213T>C	NCBI36
NG_009029.1:g.5579T>C
NG_028966.1:g.32T>C
NG_009029.2:g.5628T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.210T>C	ENSP00000509954.1:p.Pro70=
ENST00000378842.8:c.210T>C MANE Select	ENSP00000368119.4:p.Pro70=
ENST00000378842.7:c.210T>C	ENSP00000368119.3:p.Pro70=
ENST00000450095.6:c.8T>C	ENSP00000401956.2:p.Leu3Pro
ENST00000465543.6:n.549T>C
ENST00000468099.2:n.250T>C
ENST00000472111.5:n.251T>C
ENST00000473506.6:c.210T>C	ENSP00000432839.2:p.Pro70=
ENST00000473529.5:n.257T>C
ENST00000485531.1:n.203T>C
ENST00000487381.5:n.236T>C
ENST00000489643.6:n.240T>C
ENST00000554085.5:c.210T>C	ENSP00000450419.1:p.Pro70=
ENST00000554139.5:n.263T>C
ENST00000554330.5:n.207T>C
ENST00000554550.5:c.210T>C	ENSP00000451435.1:p.Pro70=
ENST00000554638.5:n.234T>C
ENST00000554897.5:c.210T>C	ENSP00000450942.1:p.Pro70=
ENST00000554944.5:n.240T>C
ENST00000555020.5:n.240T>C
ENST00000555086.5:n.214T>C
ENST00000555214.5:n.219T>C
ENST00000556157.1:n.317T>C
ENST00000556244.1:c.94T>C
ENST00000556278.1:c.210T>C	ENSP00000451792.1:p.Pro70=
ENST00000556403.5:n.223T>C
ENST00000556494.5:n.242T>C
ENST00000557541.5:n.403T>C
ENST00000557706.5:n.324T>C
NM_000155.3:c.210T>C	NP_000146.2:p.Pro70=
NM_001258332.1:c.8T>C	NP_001245261.1:p.Leu3Pro
NM_000155.4:c.210T>C MANE Select	NP_000146.2:p.Pro70=
NM_001258332.2:c.8T>C	NP_001245261.1:p.Leu3Pro