Canonical Allele Identifier: CA373284663

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649415A>C (hg19) ; chr9:g.34649418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649418A>C , CM000671.2:g.34649418A>C	GRCh38
NC_000009.11:g.34649415A>C , CM000671.1:g.34649415A>C	GRCh37
NC_000009.10:g.34639415A>C	NCBI36
NG_009029.1:g.7781A>C
NG_028966.1:g.2234A>C
NG_009029.2:g.7830A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*501A>C	ENSP00000509954.1:n.*501A>C
ENST00000378842.8:c.913A>C MANE Select	ENSP00000368119.4:p.Thr305Pro
ENST00000378842.7:c.913A>C	ENSP00000368119.3:p.Thr305Pro
ENST00000450095.6:c.586A>C	ENSP00000401956.2:p.Thr196Pro
ENST00000488412.2:n.497A>C
ENST00000489643.6:n.1321A>C
ENST00000554550.5:c.*533A>C	ENSP00000451435.1:n.*533A>C
ENST00000554638.5:n.1385A>C
ENST00000555020.5:n.1702A>C
ENST00000555754.1:n.361A>C
ENST00000556278.1:c.432+962A>C	ENSP00000451792.1:n.432+962A>C
ENST00000557706.5:n.1488A>C
NM_000155.3:c.913A>C	NP_000146.2:p.Thr305Pro
NM_001258332.1:c.586A>C	NP_001245261.1:p.Thr196Pro
NM_000155.4:c.913A>C MANE Select	NP_000146.2:p.Thr305Pro
NM_001258332.2:c.586A>C	NP_001245261.1:p.Thr196Pro