Canonical Allele Identifier: CA2579371157

Gene: GALT

Linked Data

• gnomAD v4: 9-34647433-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647433C>T , CM000671.2:g.34647433C>T	GRCh38
NC_000009.11:g.34647430C>T , CM000671.1:g.34647430C>T	GRCh37
NC_000009.10:g.34637430C>T	NCBI36
NG_009029.1:g.5796C>T
NG_028966.1:g.249C>T
NG_009029.2:g.5845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-59C>T	ENSP00000509954.1:n.253-59C>T
ENST00000378842.8:c.253-59C>T MANE Select	ENSP00000368119.4:n.253-59C>T
ENST00000378842.7:c.253-59C>T	ENSP00000368119.3:n.253-59C>T
ENST00000450095.6:c.50+175C>T	ENSP00000401956.2:n.50+175C>T
ENST00000465543.6:n.592-59C>T
ENST00000468099.2:n.467C>T
ENST00000472111.5:n.294-59C>T
ENST00000473506.6:c.253-108C>T	ENSP00000432839.2:n.253-108C>T
ENST00000473529.5:n.300-59C>T
ENST00000485531.1:n.420C>T
ENST00000487381.5:n.453C>T
ENST00000489643.6:n.282+175C>T
ENST00000554085.5:c.253-42C>T	ENSP00000450419.1:n.253-42C>T
ENST00000554139.5:n.306-59C>T
ENST00000554330.5:n.250-108C>T
ENST00000554550.5:c.252+175C>T	ENSP00000451435.1:n.252+175C>T
ENST00000554638.5:n.451C>T
ENST00000554897.5:c.252+175C>T	ENSP00000450942.1:n.252+175C>T
ENST00000554944.5:n.283-108C>T
ENST00000555020.5:n.283-59C>T
ENST00000555086.5:n.257-59C>T
ENST00000555214.5:n.261+175C>T
ENST00000556157.1:n.360-42C>T
ENST00000556244.1:c.181C>T
ENST00000556278.1:c.252+175C>T	ENSP00000451792.1:n.252+175C>T
ENST00000556403.5:n.266-59C>T
ENST00000556494.5:n.285-59C>T
ENST00000557541.5:n.446-108C>T
ENST00000557706.5:n.541C>T
NM_000155.3:c.253-59C>T	NP_000146.2:n.253-59C>T
NM_001258332.1:c.50+175C>T	NP_001245261.1:n.50+175C>T
NM_000155.4:c.253-59C>T MANE Select	NP_000146.2:n.253-59C>T
NM_001258332.2:c.50+175C>T	NP_001245261.1:n.50+175C>T