Canonical Allele Identifier: CA373283462

Gene: GALT

Linked Data

• gnomAD v4: 9-34648787-A-C
• MyVariant Identifiers: chr9:g.34648784A>C (hg19) ; chr9:g.34648787A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648787A>C , CM000671.2:g.34648787A>C	GRCh38
NC_000009.11:g.34648784A>C , CM000671.1:g.34648784A>C	GRCh37
NC_000009.10:g.34638784A>C	NCBI36
NG_009029.1:g.7150A>C
NG_028966.1:g.1603A>C
NG_009029.2:g.7199A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*301A>C	ENSP00000509954.1:n.*301A>C
ENST00000378842.8:c.713A>C MANE Select	ENSP00000368119.4:p.His238Pro
ENST00000378842.7:c.713A>C	ENSP00000368119.3:p.His238Pro
ENST00000450095.6:c.386A>C	ENSP00000401956.2:p.His129Pro
ENST00000473506.6:c.*301A>C	ENSP00000432839.2:n.*301A>C
ENST00000473529.5:n.872A>C
ENST00000487381.5:n.1403A>C
ENST00000489643.6:n.793A>C
ENST00000554085.5:c.*457A>C	ENSP00000450419.1:n.*457A>C
ENST00000554550.5:c.*333A>C	ENSP00000451435.1:n.*333A>C
ENST00000554638.5:n.1185A>C
ENST00000555020.5:n.1174A>C
ENST00000555086.5:n.717A>C
ENST00000555754.1:n.58A>C
ENST00000556244.1:c.700A>C
ENST00000556278.1:c.432+331A>C	ENSP00000451792.1:n.432+331A>C
ENST00000557706.5:n.1275A>C
NM_000155.3:c.713A>C	NP_000146.2:p.His238Pro
NM_001258332.1:c.386A>C	NP_001245261.1:p.His129Pro
NM_000155.4:c.713A>C MANE Select	NP_000146.2:p.His238Pro
NM_001258332.2:c.386A>C	NP_001245261.1:p.His129Pro