Canonical Allele Identifier: CA373283575

Gene: GALT

Linked Data

• gnomAD v4: 9-34648796-T-C
• MyVariant Identifiers: chr9:g.34648793T>C (hg19) ; chr9:g.34648796T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648796T>C , CM000671.2:g.34648796T>C	GRCh38
NC_000009.11:g.34648793T>C , CM000671.1:g.34648793T>C	GRCh37
NC_000009.10:g.34638793T>C	NCBI36
NG_009029.1:g.7159T>C
NG_028966.1:g.1612T>C
NG_009029.2:g.7208T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*310T>C	ENSP00000509954.1:n.*310T>C
ENST00000378842.8:c.722T>C MANE Select	ENSP00000368119.4:p.Val241Ala
ENST00000378842.7:c.722T>C	ENSP00000368119.3:p.Val241Ala
ENST00000450095.6:c.395T>C	ENSP00000401956.2:p.Val132Ala
ENST00000473506.6:c.*310T>C	ENSP00000432839.2:n.*310T>C
ENST00000473529.5:n.881T>C
ENST00000487381.5:n.1412T>C
ENST00000489643.6:n.802T>C
ENST00000554085.5:c.*466T>C	ENSP00000450419.1:n.*466T>C
ENST00000554550.5:c.*342T>C	ENSP00000451435.1:n.*342T>C
ENST00000554638.5:n.1194T>C
ENST00000555020.5:n.1183T>C
ENST00000555086.5:n.726T>C
ENST00000555754.1:n.67T>C
ENST00000556244.1:c.709T>C
ENST00000556278.1:c.432+340T>C	ENSP00000451792.1:n.432+340T>C
ENST00000557706.5:n.1284T>C
NM_000155.3:c.722T>C	NP_000146.2:p.Val241Ala
NM_001258332.1:c.395T>C	NP_001245261.1:p.Val132Ala
NM_000155.4:c.722T>C MANE Select	NP_000146.2:p.Val241Ala
NM_001258332.2:c.395T>C	NP_001245261.1:p.Val132Ala