Canonical Allele Identifier: CA2689808597

Gene: GALT

Linked Data

• gnomAD v4: 9-34647400-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647400C>T , CM000671.2:g.34647400C>T	GRCh38
NC_000009.11:g.34647397C>T , CM000671.1:g.34647397C>T	GRCh37
NC_000009.10:g.34637397C>T	NCBI36
NG_009029.1:g.5763C>T
NG_028966.1:g.216C>T
NG_009029.2:g.5812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-92C>T	ENSP00000509954.1:n.253-92C>T
ENST00000378842.8:c.253-92C>T MANE Select	ENSP00000368119.4:n.253-92C>T
ENST00000378842.7:c.253-92C>T	ENSP00000368119.3:n.253-92C>T
ENST00000450095.6:c.50+142C>T	ENSP00000401956.2:n.50+142C>T
ENST00000465543.6:n.592-92C>T
ENST00000468099.2:n.434C>T
ENST00000472111.5:n.294-92C>T
ENST00000473506.6:c.253-141C>T	ENSP00000432839.2:n.253-141C>T
ENST00000473529.5:n.300-92C>T
ENST00000485531.1:n.387C>T
ENST00000487381.5:n.420C>T
ENST00000489643.6:n.282+142C>T
ENST00000554085.5:c.253-75C>T	ENSP00000450419.1:n.253-75C>T
ENST00000554139.5:n.306-92C>T
ENST00000554330.5:n.250-141C>T
ENST00000554550.5:c.252+142C>T	ENSP00000451435.1:n.252+142C>T
ENST00000554638.5:n.418C>T
ENST00000554897.5:c.252+142C>T	ENSP00000450942.1:n.252+142C>T
ENST00000554944.5:n.283-141C>T
ENST00000555020.5:n.283-92C>T
ENST00000555086.5:n.257-92C>T
ENST00000555214.5:n.261+142C>T
ENST00000556157.1:n.360-75C>T
ENST00000556244.1:c.148C>T
ENST00000556278.1:c.252+142C>T	ENSP00000451792.1:n.252+142C>T
ENST00000556403.5:n.266-92C>T
ENST00000556494.5:n.285-92C>T
ENST00000557541.5:n.446-141C>T
ENST00000557706.5:n.508C>T
NM_000155.3:c.253-92C>T	NP_000146.2:n.253-92C>T
NM_001258332.1:c.50+142C>T	NP_001245261.1:n.50+142C>T
NM_000155.4:c.253-92C>T MANE Select	NP_000146.2:n.253-92C>T
NM_001258332.2:c.50+142C>T	NP_001245261.1:n.50+142C>T