Canonical Allele Identifier: CA347264067

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73489747-A-T
• MyVariant Identifiers: chr2:g.73716874A>T (hg19) ; chr2:g.73489747A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489747A>T , CM000664.2:g.73489747A>T	GRCh38
NC_000002.11:g.73716874A>T , CM000664.1:g.73716874A>T	GRCh37
NC_000002.10:g.73570382A>T	NCBI36
NG_011690.1:g.108995A>T , LRG_741:g.108995A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7407A>T	ENSP00000507671.1:p.Gln2469His
ENST00000682801.1:c.7407A>T	ENSP00000507862.1:p.Gln2469His
ENST00000682859.1:c.7407A>T	ENSP00000508222.1:p.Gln2469His
ENST00000683791.1:c.799A>T
ENST00000684460.1:c.4859A>T
ENST00000684548.1:c.7407A>T	ENSP00000507421.1:p.Gln2469His
ENST00000684590.1:c.1854A>T	ENSP00000507376.1:p.Gln618His
ENST00000684656.1:c.4859A>T
ENST00000613296.6:c.7788A>T MANE Select	ENSP00000482968.1:p.Gln2596His
ENST00000651434.1:c.896-30028A>T
ENST00000423048.5:c.2619A>T	ENSP00000399833.1:p.Gln873His
ENST00000484298.5:c.7662A>T	ENSP00000478155.1:p.Gln2554His
ENST00000613296.4:c.7788A>T	ENSP00000482968.1:p.Gln2596His
ENST00000614410.4:c.7788A>T	ENSP00000479094.1:p.Gln2596His
ENST00000620466.4:n.1591A>T
NM_015120.4:c.7791A>T , LRG_741t1:c.7791A>T	NP_055935.4:p.Gln2597His
NM_001378454.1:c.7788A>T MANE Select	NP_001365383.1:p.Gln2596His