Canonical Allele Identifier: CA373280386

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647680G>C (hg19) ; chr9:g.34647683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647683G>C , CM000671.2:g.34647683G>C	GRCh38
NC_000009.11:g.34647680G>C , CM000671.1:g.34647680G>C	GRCh37
NC_000009.10:g.34637680G>C	NCBI36
NG_009029.1:g.6046G>C
NG_028966.1:g.499G>C
NG_009029.2:g.6095G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+116G>C	ENSP00000509954.1:n.328+116G>C
ENST00000378842.8:c.355G>C MANE Select	ENSP00000368119.4:p.Ala119Pro
ENST00000378842.7:c.355G>C	ENSP00000368119.3:p.Ala119Pro
ENST00000450095.6:c.51-149G>C	ENSP00000401956.2:n.51-149G>C
ENST00000465543.6:n.694G>C
ENST00000472111.5:n.485G>C
ENST00000473506.6:c.306G>C	ENSP00000432839.2:p.Lys102Asn
ENST00000473529.5:n.491G>C
ENST00000485531.1:n.670G>C
ENST00000487381.5:n.614G>C
ENST00000489643.6:n.282+425G>C
ENST00000554085.5:c.*99G>C	ENSP00000450419.1:n.*99G>C
ENST00000554139.5:n.408G>C
ENST00000554330.5:n.392G>C
ENST00000554550.5:c.253-149G>C	ENSP00000451435.1:n.253-149G>C
ENST00000554638.5:n.701G>C
ENST00000554897.5:c.253-149G>C	ENSP00000450942.1:n.253-149G>C
ENST00000554944.5:n.425G>C
ENST00000555020.5:n.385G>C
ENST00000555086.5:n.359G>C
ENST00000555214.5:n.262-365G>C
ENST00000556157.1:n.479G>C
ENST00000556244.1:c.342G>C
ENST00000556278.1:c.252+425G>C	ENSP00000451792.1:n.252+425G>C
ENST00000556403.5:n.457G>C
ENST00000556494.5:n.476G>C
ENST00000557541.5:n.499G>C
ENST00000557706.5:n.791G>C
NM_000155.3:c.355G>C	NP_000146.2:p.Ala119Pro
NM_001258332.1:c.51-149G>C	NP_001245261.1:n.51-149G>C
NM_000155.4:c.355G>C MANE Select	NP_000146.2:p.Ala119Pro
NM_001258332.2:c.51-149G>C	NP_001245261.1:n.51-149G>C