Canonical Allele Identifier: CA2750467730

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572118G>C , CM000664.2:g.73572118G>C	GRCh38
NC_000002.11:g.73799245G>C , CM000664.1:g.73799245G>C	GRCh37
NC_000002.10:g.73652753G>C	NCBI36
NG_011690.1:g.191366G>C , LRG_741:g.191366G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-144G>C	ENSP00000507671.1:n.10004-144G>C
ENST00000682801.1:c.10004-144G>C	ENSP00000507862.1:n.10004-144G>C
ENST00000682859.1:c.10004-144G>C	ENSP00000508222.1:n.10004-144G>C
ENST00000683791.1:c.3090-144G>C
ENST00000684460.1:c.7285-144G>C
ENST00000684548.1:c.10004-144G>C	ENSP00000507421.1:n.10004-144G>C
ENST00000684590.1:c.4451-144G>C	ENSP00000507376.1:n.4451-144G>C
ENST00000684656.1:c.7330-144G>C
ENST00000613296.6:c.10385-144G>C MANE Select	ENSP00000482968.1:n.10385-144G>C
ENST00000651057.1:c.539-144G>C	ENSP00000498504.1:n.539-144G>C
ENST00000651434.1:c.1741-144G>C
ENST00000652487.1:c.1482-144G>C
ENST00000423048.5:c.3876-144G>C	ENSP00000399833.1:n.3876-144G>C
ENST00000484298.5:c.10259-144G>C	ENSP00000478155.1:n.10259-144G>C
ENST00000613296.4:c.10385-144G>C	ENSP00000482968.1:n.10385-144G>C
ENST00000614410.4:c.10385-144G>C	ENSP00000479094.1:n.10385-144G>C
ENST00000620466.4:n.4188-144G>C
NM_015120.4:c.10388-144G>C , LRG_741t1:c.10388-144G>C	NP_055935.4:n.10388-144G>C
NM_001378454.1:c.10385-144G>C MANE Select	NP_001365383.1:n.10385-144G>C