Canonical Allele Identifier: CA464403206

Gene: GALT

Linked Data

• gnomAD v4: 9-34648854-T-C
• MyVariant Identifiers: chr9:g.34648851T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648854T>C , CM000671.2:g.34648854T>C	GRCh38
NC_000009.11:g.34648851T>C , CM000671.1:g.34648851T>C	GRCh37
NC_000009.10:g.34638851T>C	NCBI36
NG_009029.1:g.7217T>C
NG_028966.1:g.1670T>C
NG_009029.2:g.7266T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*368T>C	ENSP00000509954.1:n.*368T>C
ENST00000378842.8:c.780T>C MANE Select	ENSP00000368119.4:p.His260=
ENST00000378842.7:c.780T>C	ENSP00000368119.3:p.His260=
ENST00000450095.6:c.453T>C	ENSP00000401956.2:p.His151=
ENST00000473506.6:c.*368T>C	ENSP00000432839.2:n.*368T>C
ENST00000489643.6:n.860T>C
ENST00000554085.5:c.*524T>C	ENSP00000450419.1:n.*524T>C
ENST00000554550.5:c.*400T>C	ENSP00000451435.1:n.*400T>C
ENST00000554638.5:n.1252T>C
ENST00000555020.5:n.1241T>C
ENST00000555086.5:n.784T>C
ENST00000555754.1:n.125T>C
ENST00000556244.1:c.767T>C
ENST00000556278.1:c.432+398T>C	ENSP00000451792.1:n.432+398T>C
ENST00000557706.5:n.1342T>C
NM_000155.3:c.780T>C	NP_000146.2:p.His260=
NM_001258332.1:c.453T>C	NP_001245261.1:p.His151=
NM_000155.4:c.780T>C MANE Select	NP_000146.2:p.His260=
NM_001258332.2:c.453T>C	NP_001245261.1:p.His151=