Canonical Allele Identifier: CA1714390
Gene: ALMS1 HGNC NCBI

Linked Data

dbSNP Id: rs2017116
gnomAD v2: 2-73717103-G-A
gnomAD v4: 2-73489976-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73489976G>A , CM000664.2:g.73489976G>A GRCh38
NC_000002.11:g.73717103G>A , CM000664.1:g.73717103G>A GRCh37
NC_000002.10:g.73570611G>A NCBI36
NG_011690.1:g.109224G>A , LRG_741:g.109224G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.7636G>A ENSP00000507671.1:p.Asp2546Asn
ENST00000682801.1:c.7636G>A ENSP00000507862.1:p.Asp2546Asn
ENST00000682859.1:c.7636G>A ENSP00000508222.1:p.Asp2546Asn
ENST00000683791.1:c.1028G>A
ENST00000684460.1:c.5088G>A
ENST00000684548.1:c.7636G>A ENSP00000507421.1:p.Asp2546Asn
ENST00000684590.1:c.2083G>A ENSP00000507376.1:p.Asp695Asn
ENST00000684656.1:c.5088G>A
ENST00000613296.6:c.8017G>A MANE Select ENSP00000482968.1:p.Asp2673Asn
ENST00000651434.1:c.896-29799G>A
ENST00000423048.5:c.2848G>A ENSP00000399833.1:p.Asp950Asn
ENST00000484298.5:c.7891G>A ENSP00000478155.1:p.Asp2631Asn
ENST00000613296.4:c.8017G>A ENSP00000482968.1:p.Asp2673Asn
ENST00000614410.4:c.8017G>A ENSP00000479094.1:p.Asp2673Asn
ENST00000620466.4:n.1820G>A
NM_015120.4:c.8020G>A , LRG_741t1:c.8020G>A NP_055935.4:p.Asp2674Asn
NM_001378454.1:c.8017G>A MANE Select NP_001365383.1:p.Asp2673Asn