Canonical Allele Identifier: CA373281889

Gene: GALT

Linked Data

• gnomAD v4: 9-34648350-T-C
• MyVariant Identifiers: chr9:g.34648347T>C (hg19) ; chr9:g.34648350T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648350T>C , CM000671.2:g.34648350T>C	GRCh38
NC_000009.11:g.34648347T>C , CM000671.1:g.34648347T>C	GRCh37
NC_000009.10:g.34638347T>C	NCBI36
NG_009029.1:g.6713T>C
NG_028966.1:g.1166T>C
NG_009029.2:g.6762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*169T>C	ENSP00000509954.1:n.*169T>C
ENST00000378842.8:c.581T>C MANE Select	ENSP00000368119.4:p.Phe194Ser
ENST00000378842.7:c.581T>C	ENSP00000368119.3:p.Phe194Ser
ENST00000450095.6:c.254T>C	ENSP00000401956.2:p.Phe85Ser
ENST00000472111.5:n.837T>C
ENST00000473506.6:c.*169T>C	ENSP00000432839.2:n.*169T>C
ENST00000473529.5:n.740T>C
ENST00000485531.1:n.1175T>C
ENST00000487381.5:n.966T>C
ENST00000489643.6:n.356T>C
ENST00000554085.5:c.*325T>C	ENSP00000450419.1:n.*325T>C
ENST00000554139.5:n.827T>C
ENST00000554550.5:c.*201T>C	ENSP00000451435.1:n.*201T>C
ENST00000554638.5:n.1053T>C
ENST00000554897.5:c.*268T>C	ENSP00000450942.1:n.*268T>C
ENST00000554944.5:n.930T>C
ENST00000555020.5:n.737T>C
ENST00000555086.5:n.585T>C
ENST00000555214.5:n.402T>C
ENST00000556244.1:c.568T>C
ENST00000556278.1:c.326T>C	ENSP00000451792.1:p.Phe109Ser
ENST00000556494.5:n.702T>C
ENST00000557706.5:n.1143T>C
NM_000155.3:c.581T>C	NP_000146.2:p.Phe194Ser
NM_001258332.1:c.254T>C	NP_001245261.1:p.Phe85Ser
NM_000155.4:c.581T>C MANE Select	NP_000146.2:p.Phe194Ser
NM_001258332.2:c.254T>C	NP_001245261.1:p.Phe85Ser