Canonical Allele Identifier: CA3496221

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 260055
• ClinVar RCV Id: RCV000243537 ; RCV000351049 ; RCV001640543
• dbSNP Id: rs2400478
• ExAC: 5:147510866 T / C
• gnomAD v2: 5-147510866-T-C
• gnomAD v3: 5-148131303-T-C
• gnomAD v4: 5-148131303-T-C
• MyVariant Identifiers: chr5:g.147510866T>C (hg19) ; chr5:g.148131303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131303T>C , CM000667.2:g.148131303T>C	GRCh38
NC_000005.9:g.147510866T>C , CM000667.1:g.147510866T>C	GRCh37
NC_000005.8:g.147491059T>C	NCBI36
NG_009633.1:g.72332T>C , LRG_110:g.72332T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000256084.8:c.3009T>C MANE Select	ENSP00000256084.7:p.Gly1003=
ENST00000256084.7:c.3009T>C	ENSP00000256084.7:p.Gly1003=
ENST00000359874.7:c.3099T>C	ENSP00000352936.3:p.Gly1033=
NM_001127698.1:c.3099T>C	NP_001121170.1:p.Gly1033=
NM_006846.3:c.3009T>C , LRG_110t1:c.3009T>C	NP_006837.2:p.Gly1003=
XM_011537550.1:c.3042T>C	XP_011535852.1:p.Gly1014=
XM_011537551.1:c.3015T>C	XP_011535853.1:p.Gly1005=
XM_011537551.2:c.3015T>C	XP_011535853.1:p.Gly1005=
NM_001127698.2:c.3099T>C	NP_001121170.1:p.Gly1033=
NM_006846.4:c.3009T>C MANE Select	NP_006837.2:p.Gly1003=