Canonical Allele Identifier: CA373278728

Gene: GALT

Linked Data

• gnomAD v4: 9-34647208-C-T
• MyVariant Identifiers: chr9:g.34647205C>T (hg19) ; chr9:g.34647208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647208C>T , CM000671.2:g.34647208C>T	GRCh38
NC_000009.11:g.34647205C>T , CM000671.1:g.34647205C>T	GRCh37
NC_000009.10:g.34637205C>T	NCBI36
NG_009029.1:g.5571C>T
NG_028966.1:g.24C>T
NG_009029.2:g.5620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.202C>T	ENSP00000509954.1:p.His68Tyr
ENST00000378842.8:c.202C>T MANE Select	ENSP00000368119.4:p.His68Tyr
ENST00000378842.7:c.202C>T	ENSP00000368119.3:p.His68Tyr
ENST00000450095.6:c.-1C>T	ENSP00000401956.2:n.-1C>T
ENST00000465543.6:n.541C>T
ENST00000468099.2:n.242C>T
ENST00000472111.5:n.243C>T
ENST00000473506.6:c.202C>T	ENSP00000432839.2:p.His68Tyr
ENST00000473529.5:n.249C>T
ENST00000485531.1:n.195C>T
ENST00000487381.5:n.228C>T
ENST00000489643.6:n.232C>T
ENST00000554085.5:c.202C>T	ENSP00000450419.1:p.His68Tyr
ENST00000554139.5:n.255C>T
ENST00000554330.5:n.199C>T
ENST00000554550.5:c.202C>T	ENSP00000451435.1:p.His68Tyr
ENST00000554638.5:n.226C>T
ENST00000554897.5:c.202C>T	ENSP00000450942.1:p.His68Tyr
ENST00000554944.5:n.232C>T
ENST00000555020.5:n.232C>T
ENST00000555086.5:n.206C>T
ENST00000555214.5:n.211C>T
ENST00000556157.1:n.309C>T
ENST00000556244.1:c.86C>T
ENST00000556278.1:c.202C>T	ENSP00000451792.1:p.His68Tyr
ENST00000556403.5:n.215C>T
ENST00000556494.5:n.234C>T
ENST00000557541.5:n.395C>T
ENST00000557706.5:n.316C>T
NM_000155.3:c.202C>T	NP_000146.2:p.His68Tyr
NM_001258332.1:c.-1C>T	NP_001245261.1:n.-1C>T
NM_000155.4:c.202C>T MANE Select	NP_000146.2:p.His68Tyr
NM_001258332.2:c.-1C>T	NP_001245261.1:n.-1C>T