Canonical Allele Identifier: CA5036034

Gene: GALT

Linked Data

• dbSNP Id: rs139056441
• ExAC: 9:34647179 C / A
• gnomAD v2: 9-34647179-C-A
• gnomAD v3: 9-34647182-C-A
• gnomAD v4: 9-34647182-C-A
• MyVariant Identifiers: chr9:g.34647179C>A (hg19) ; chr9:g.34647182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647182C>A , CM000671.2:g.34647182C>A	GRCh38
NC_000009.11:g.34647179C>A , CM000671.1:g.34647179C>A	GRCh37
NC_000009.10:g.34637179C>A	NCBI36
NG_009029.1:g.5545C>A
NG_009029.2:g.5594C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.176C>A	ENSP00000509954.1:p.Pro59His
ENST00000378842.8:c.176C>A MANE Select	ENSP00000368119.4:p.Pro59His
ENST00000378842.7:c.176C>A	ENSP00000368119.3:p.Pro59His
ENST00000450095.6:c.-27C>A	ENSP00000401956.2:n.-27C>A
ENST00000465543.6:n.515C>A
ENST00000468099.2:n.216C>A
ENST00000472111.5:n.217C>A
ENST00000473506.6:c.176C>A	ENSP00000432839.2:p.Pro59His
ENST00000473529.5:n.223C>A
ENST00000485531.1:n.169C>A
ENST00000487381.5:n.202C>A
ENST00000489643.6:n.206C>A
ENST00000554085.5:c.176C>A	ENSP00000450419.1:p.Pro59His
ENST00000554139.5:n.229C>A
ENST00000554330.5:n.173C>A
ENST00000554550.5:c.176C>A	ENSP00000451435.1:p.Pro59His
ENST00000554638.5:n.200C>A
ENST00000554897.5:c.176C>A	ENSP00000450942.1:p.Pro59His
ENST00000554944.5:n.206C>A
ENST00000555020.5:n.206C>A
ENST00000555086.5:n.180C>A
ENST00000555214.5:n.185C>A
ENST00000556157.1:n.283C>A
ENST00000556244.1:c.60C>A
ENST00000556278.1:c.176C>A	ENSP00000451792.1:p.Pro59His
ENST00000556403.5:n.189C>A
ENST00000556494.5:n.208C>A
ENST00000557541.5:n.369C>A
ENST00000557706.5:n.290C>A
NM_000155.3:c.176C>A	NP_000146.2:p.Pro59His
NM_001258332.1:c.-27C>A	NP_001245261.1:n.-27C>A
NM_000155.4:c.176C>A MANE Select	NP_000146.2:p.Pro59His
NM_001258332.2:c.-27C>A	NP_001245261.1:n.-27C>A