Canonical Allele Identifier: CA464401869

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648117T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648120T>C , CM000671.2:g.34648120T>C	GRCh38
NC_000009.11:g.34648117T>C , CM000671.1:g.34648117T>C	GRCh37
NC_000009.10:g.34638117T>C	NCBI36
NG_009029.1:g.6483T>C
NG_028966.1:g.936T>C
NG_009029.2:g.6532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*101T>C	ENSP00000509954.1:n.*101T>C
ENST00000378842.8:c.513T>C MANE Select	ENSP00000368119.4:p.Phe171=
ENST00000378842.7:c.513T>C	ENSP00000368119.3:p.Phe171=
ENST00000450095.6:c.186T>C	ENSP00000401956.2:p.Phe62=
ENST00000465543.6:n.852T>C
ENST00000472111.5:n.769T>C
ENST00000473506.6:c.*101T>C	ENSP00000432839.2:n.*101T>C
ENST00000473529.5:n.672T>C
ENST00000485531.1:n.1107T>C
ENST00000487381.5:n.898T>C
ENST00000489643.6:n.288T>C
ENST00000554085.5:c.*257T>C	ENSP00000450419.1:n.*257T>C
ENST00000554139.5:n.759T>C
ENST00000554550.5:c.*133T>C	ENSP00000451435.1:n.*133T>C
ENST00000554638.5:n.985T>C
ENST00000554897.5:c.*200T>C	ENSP00000450942.1:n.*200T>C
ENST00000554944.5:n.862T>C
ENST00000555020.5:n.669T>C
ENST00000555086.5:n.517T>C
ENST00000555214.5:n.334T>C
ENST00000556244.1:c.500T>C
ENST00000556278.1:c.258T>C	ENSP00000451792.1:p.Phe86=
ENST00000556494.5:n.634T>C
ENST00000557706.5:n.1075T>C
NM_000155.3:c.513T>C	NP_000146.2:p.Phe171=
NM_001258332.1:c.186T>C	NP_001245261.1:p.Phe62=
NM_000155.4:c.513T>C MANE Select	NP_000146.2:p.Phe171=
NM_001258332.2:c.186T>C	NP_001245261.1:p.Phe62=